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Turner Syndrome (turner + syndrome)

Distribution by Scientific Domains

Medical Sciences	60%
Life Sciences	28%
Humanities and Social Sciences	10%

Selected Abstracts

Congenital Cardiovascular Disease in Turner Syndrome

CONGENITAL HEART DISEASE, Issue 1 2008
Carolyn A. Bondy MD
ABSTRACT Turner syndrome (TS), or monosomy X, occurs in ,1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects ,50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed. [source]

Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex

PRENATAL DIAGNOSIS, Issue 7 2007
F. J. Fernández-Martínez
Abstract Objective To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. Methods We describe the case of a monochorionic (MC) diamniotic (DA) pregnancy with phenotypically discordant twins (nuchal cystic hygroma and non-immune hydrops in twin A and no anomalies in twin B). QF-PCR was performed for rapid prenatal diagnosis in uncultured amniocytes and subsequently in cultured cells. Polymorphic markers for chromosomes X, Y, 13, 18 and 21 were used for determination of zygosity as well as sex chromosome aneuploidy. Results Twin A showed a Turner Syndrome (TS) mosaicism pattern by QF-PCR in uncultured amniocytes. The monozygotic origin of the pregnancy was determined. Interphase fluorescence in situ hybridization (I-FISH) in this sample showed a mosaicism X0/XY (83/17%). Cytogenetic analysis revealed a 45,X0 karyotype in twin A and a 46,XY karyotype in twin B. Conclusions QF-PCR is a reliable tool for the determination of the zygosity independently of the chorionicity and the fetal sex in case of twin pregnancy. Testing both direct and cultured cells can provide useful results for genetic counselling in chromosomal mosaicisms. Copyright © 2007 John Wiley & Sons, Ltd. [source]

Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF,PCR)

ANNALS OF HUMAN GENETICS, Issue 5 2001
V. CIRIGLIANO
Rapid prenatal diagnoses of major chromosome aneuploidies have been achieved successfully using quantitative fluoresent PCR (QF,PCR) assays and small tandem repeat (STR) markers. Here we report the results of evaluating the use of previously untested X-linked STRs, (DXS6803) and (DXS6809), together with modified amelogenin (AMXY) sequences and the X22 marker that maps in the pseudoautosomal region PAR2 on the long arm of the X and Y chromosomes. These markers will allow prenatal diagnoses of sex chromosome aneuploidies such as 45,X (pure Turner Syndrome), 47,XXY and 47,XYY, while assessing the sex of the fetuses. Data are also presented concerning the difficulties associated with the evaluation of the frequencies of the various types of sub-populations of cells in amniotic fluid samples collected from fetuses with sex chromosome mosaicism. The results of evaluating the use of new markers for the rapid diagnosis of aneuploidies affecting chromosomes 21,18 and 13 are also presented. Three chromosome 21 specific STRs have been found to produce trisomic triallelic or diallelic patterns from all amniotic samples retrieved from fetuses with Down Syndrome. Since all samples tested were amplified and no false positive or negative results were observed, the present results confirm the diagnostic value of QF,PCR for the prenatal detection of major numerical chromosome disorders. [source]

Congenital Cardiovascular Disease in Turner Syndrome

Turner syndrome: Neuroimaging findings: Structural and functional

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2009
Ronan Mullaney
Abstract Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:279,283. [source]

Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2003
Susannah L Fryer BA
Previous neuroimaging research in Turner syndrome (TS) has indicated parietal lobe anomalies, while anomalies in other brain loci have been less well-substantiated. This study focused on potential cerebellar abnormalities and possible disruptions of interhemispheric (parietal) callosal connections in individuals with TS. Twenty-seven female children and adolescents with TS (mean age 13 years, SD 4 years 2 months) and 27 age-matched female control individuals (mean age 13 years 2 months, SD 4 years 1 month) underwent MRI. Age range of all participants was 7 to 20 years. Morphometric analyses of midline brain structures were conducted using standardized, reliable methods. When compared with control participants, females with TS showed reduced areas of the genu of the corpus callosum, the pons, and vermis lobules VI,VII, and an increased area of the fourth ventricle. No group difference in intracranial area measurements was observed. The reduced area of the genu in TS may reflect compromised connectivity between inferior parietal regions. Further, cerebellar vermis hypoplasia associated with TS agrees with literature that suggests the posterior fossa as a region prone to structural alterations in the face of early developmental insult. [source]

Turner syndrome and the evolution of human sexual dimorphism

EVOLUTIONARY APPLICATIONS (ELECTRONIC), Issue 3 2008
Bernard Crespi
Abstract Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism. [source]

Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?

HEPATOLOGY, Issue 5 2004
Piotr Milkiewicz
The mechanisms that cause the female predominance of primary biliary cirrhosis (PBC) are uncertain, but the X chromosome includes genes involved in immunological tolerance. We assessed the rate of X monosomy in peripheral white blood cells from 100 women with PBC, 50 with chronic hepatitis C, and 50 healthy controls, by fluorescence in-situ hybridisation. Frequency of X monosomy increased with age in all groups, but was significantly higher in women with PBC than in controls (p<0.0001); age-adjusted back-transformed mean frequencies were 0.050 (95% CI 0.046-0.055) in women with PBC, 0.032 (0.028-0.036) in those with chronic hepatitis C, and 0.028 (0.025-0.032) in controls. We suggest that haploinsufficiency for specific X-linked genes leads to female susceptibility to PBC. [source]

Health-care problems of Turner syndrome in the adult woman: a cross sectional study of a Victorian cohort and a case for transition

INTERNAL MEDICINE JOURNAL, Issue 1 2006
C. C. Pedreira
Abstract The aim of this study was to assess current care and to survey comorbidity in a cohort of 39 adult women with Turner syndrome in Victoria. Patients with Turner syndrome (TS) drift away from medical care as they achieve adulthood, despite the need for regular surveillance and management of associated conditions, which would reduce morbidity and prevent complications. Clinical assessment was undertaken for 39 women with TS, mean age 30.1 (±11.7) years and information was gathered through personal communication regarding past growth hormone use, oestrogen treatment, hearing loss and health problems. Twenty-four (63.2%) had regular follow-up, but only 17 (43.6%) had adequate recommended surveillance for comorbidities. Forty-three percent had two or more cardiovascular risk factors. Thirty-four (87.2%) were identified with one or more associated disorders. Uterine size was of normal adult dimensions in patients who had received oestrogen before age of 15 years. Adult care for adults with TS is suboptimal and assessment of comorbidities remains sporadic. Adequate transition guidelines and patient education are needed for long-term management of women with TS, to impact on quality of life and longevity. [source]

Middle cerebral artery peak systolic velocity and ductus venosus velocity in the investigation of nonimmune hydrops

JOURNAL OF CLINICAL ULTRASOUND, Issue 7 2009
Sedigheh Borna MD
Abstract Purpose. This study was performed to investigate the cause of nonimmune hydrops fetalis by measuring the peak systolic velocity (PSV) in the middle cerebral artery (MCA) and velocity waveforms of the ductus venosus (DV) with Doppler. Methods. This cross-sectional study was done on 19 pregnancies referred to three university teaching hospitals for further investigation of nonimmune hydrops fetalis in 2007 and 2008. The MCA-PSV and DV velocity waveforms were recorded in all fetuses. Anemia was investigated in cases with MCA-PSV values greater than 1.50 MoM (multiple of the median). Cardiovascular causes and chromosomal abnormalities were investigated in fetuses with abnormal DV velocity. Results. Four of 19 fetuses had MCA-PSV values greater than 1.50 MoM. The causes of anemia were cytomegalovirus, parvovirus B19 infections, congenital heart disease, and Turner syndrome. Four cases had reversed flow in the DV; three of them had congenital heart disease on echocardiography; and one had a normal echocardiogram, but an abnormal karyotype was detected. Conclusion. Assessment of the MCA-PSV and DV velocity waveforms during sonographic examination of fetuses with nonimmune hydrops fetalis may improve our knowledge about the etiology of this condition. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009 [source]

First-trimester Down syndrome screening in women younger than 35 years old and cost-effectiveness analysis in Taiwan population

JOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 5 2009
Ching-Yu Chou MD
Summary Objectives, Outcome of the first-trimester Down syndrome screening in younger population was less reported before. We present the outcome of this screening in Taiwanese women younger than 35 years old. We also test whether or not the first-trimester Down syndrome screening of women <35 years of age and women >35 years old routinely receiving amniocentesis is cost-effective compared with all pregnant women screened with this test in the setting of increased maternal age. Methods, From 1999 to 2007, the first-trimester Down syndrome screening including nuchal thickness, pregnancy-associated plasma protein A and free ,-hCG are provided to 10 811 singleton women <35 years of age with the cut-off of 1/270. A cost-effectiveness analysis of young women receiving this screening and older women undergo amniocentesis versus all women undergo this screening was performed in Taiwan population from 1987 to 2006, in which advanced age pregnancies increased from 2.8% to 11.6% of total pregnancies. Results, Detection rates of trisomy 21, trisomy 18, Turner syndrome and other chromosome anormalies in women <35 years of age are 87.5% (14/16), 50% (2/4), 80% (8/10) and 63% (12/19), respectively, with a false-positive rate of 5.5% (590/10 811). As advanced age pregnancies reached 11.6%, the average cost per one case averted for all women screened ranged from $77 204 to $98 421, while the cost ranged from $99 647 to $116 433 for only women <35 years of age receiving this screening. Conclusions, In an aging population, the first-trimester Down syndrome screening should be implemented for all pregnant women when it is available. [source]

Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism

JOURNAL OF EVOLUTIONARY BIOLOGY, Issue 4 2006
C. BADCOCK
Abstract We describe a new hypothesis for the development of autism, that it is driven by imbalances in brain development involving enhanced effects of paternally expressed imprinted genes, deficits of effects from maternally expressed genes, or both. This hypothesis is supported by: (1) the strong genomic-imprinting component to the genetic and developmental mechanisms of autism, Angelman syndrome, Rett syndrome and Turner syndrome; (2) the core behavioural features of autism, such as self-focused behaviour, altered social interactions and language, and enhanced spatial and mechanistic cognition and abilities, and (3) the degree to which relevant brain functions and structures are altered in autism and related disorders. The imprinted brain theory of autism has important implications for understanding the genetic, epigenetic, neurological and cognitive bases of autism, as ultimately due to imbalances in the outcomes of intragenomic conflict between effects of maternally vs. paternally expressed genes. [source]

Precocious puberty in Turner syndrome

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 11 2007
Matthew A Sabin
Abstract: Turner syndrome (TS) affects approximately 1 in 2000 liveborn girls. It is a common cause of short stature and is often, but not universally, associated with characteristic dysmorphic features and ovarian dysgenesis. Genotype/phenotype correlation in TS is generally poor and girls with TS may occasionally have normal functioning ovarian tissue, with approximately 30,40% entering puberty, 4% achieving menarche and 1% being fertile. In this report, we describe a girl with mosaic TS who unusually experienced spontaneous precocious puberty with associated accelerated longitudinal growth during mid childhood. This case acts as a useful clinical vignette with which to highlight important aspects of diagnosis and treatment in children with TS, particularly in relation to future growth potential and issues relating to fertility. [source]

Parents' descriptions of development and problems associated with infants with Turner syndrome: A retrospective study

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 4 2003
M Starke
Objective: To describe parents' experiences of having an infant diagnosed with Turner syndrome and to determine whether receiving the diagnosis influenced the parents' perceptions of their child's development and/or problems during infancy. In addition, we set out to determine whether the late development of the infant and the perceived problems were related to genotype. Methods: In this retrospective study, 54 parents (39 mothers and 15 fathers) from different families, each containing a girl with Turner syndrome, were interviewed in order to describe the development, feeding and overall well-being of their daughter during infancy (defined as being before the age of 2 years). Results: Late development was reported to occur in the areas of motor activity (39%), fine motor control (59%), speech (37%) and language (37%). Feeding problems were frequent (74%) and screaming periods occurred in 41%. No differences were found between the responses of the parents whose children were diagnosed before 2 years of age and the responses of those whose children were diagnosed after 2 years of age. No differences were found concerning development and/or problems between the genotypes. Conclusions: Parents reported delayed development and problems to do with feeding and crying during infancy. These problems had an effect on their everyday life and that of their families, especially the problems relating to feeding. Parents reported that support and advice would have been of significant benefit in coping with the feeding difficulties. Parents were particularly concerned that the personnel at well-baby clinics should be more knowledgeable about the difficulties that can occur in families with an infant with Turner syndrome. [source]

The frequency of occurrence of abnormal frenal attachment of lips and enamel defects in Turner syndrome

ORAL DISEASES, Issue 2 2008
A Kusiak
Objective:, The aim of the work was to register the frequency of occurrence of abnormal frenal attachment of lips and enamel defects and find the correlation between these anomalies and three types of Turner syndrome. Materials and methods:, Fifty patients (aged 20,40 years) were clinically and cytogenetically diagnosed and divided into three groups, according to karyotype: 45,X (17 cases), with structural aberrations of chromosome X (12 cases) and with mosaic karyotype (21 cases). The control group consisted of 51 healthy woman aged 21,40 years. Subjects were screened for developmental anomalies in the labial frenula and enamel defects in three groups of Turner syndrome. Results:, Some significant anomalies of soft and hard tissues were found in studied patients: abnormal frenal attachments (42% of cases), enamel opacities (58% of cases) and enamel hypoplasia (38% of cases). Differences in the occurrence of these anomaly in all group with Turner syndrome in comparison with the control group were significantly different. Enamel defects were prevalent in the patients with karyotype 45,X and patients with structural aberrations of chromosome X in comparison with the mosaic karyotype. Conclusion:, The results of the present study have shown, that abnormal attachment of lips and enamel defects were more frequent in Turner syndrome patients than in the control group. Enamel defects were correlated with the karyotypes of Turner syndrome and abnormal attachment of lips was not correlated with the karyotypes of Turner syndrome. [source]

Turner syndrome phalangeal screening based on a two-stage linear regression concept

PEDIATRICS INTERNATIONAL, Issue 4 2009
Chui-Mei Tiu
Abstract Background:, Turner syndrome (TS) is a congenital chromosomal abnormality, resulting in short stature, short fourth metacarpal, and retarded skeletal maturation in children. The existing methods of diagnosis, which include carpal angle, metacarpal sign, and body mass index (BMI), cannot accurately diagnose TS. The authors propose a novel procedure for examining the hand skeleton to distinguish between normal individuals and patients with TS. Methods:, This investigation was divided into two parts. In the first part, existing methods (evaluation of the metacarpal sign, measurement of the carpal angle, and determination of BMI) were used. Examination in the second part was based on the two-stage screening method (TSSM). In the first stage in TSSM, the ratio of the lengths of the distal,middle phalanges of the fifth digit was determined in normal subjects with average range of satisfactory body height and TS patients. A suitable cut-off was found on linear regression and used to divide the plot into TS patients and normal subjects. In the second stage, the normal section was transferred to another group based on bone and chronological ages. A greater number of patients were diagnosed with TS using this method. Finally, four cut-off parameters were determined on linear regression analysis. Results with optimal sensitivity and specificity were automatically obtained. Results:, The combination of TSSM with optimal programming (sensitivity = 0.81 and specificity = 0.91) was satisfactory for diagnosing TS patients. Conclusion:, TSSM can suitably evaluate growth of the hand skeleton to distinguish between normal individuals and patients with TS. [source]

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly

PRENATAL DIAGNOSIS, Issue 3 2005
Claudio Celentano
Abstract Objective Isolated elevations in midtrimester maternal serum human chorionic gonadotrophin concentrations (MShCG) have been reported to be associated with a substantially increased likelihood of fetal congenital malformations. The reported malformations included a wide range of organ systems, originating at different embryologic developmental stages. The purpose of our study was to determine the significance of an isolated elevated MShCG (>2.5 MoM) in midtrimester for the detection of fetal structural anomalies in a large population. Methods Among 10 144 women who underwent a biochemical triple screen at 15 to 18 weeks' gestation, 463 patients, who had an elevated MShCG, but normal ,-fetoprotein (AFP) and unconjugated estriol (uE3) levels, were identified. Patients with an integrated calculated Down syndrome risk above 1:250 were excluded. Only nonsmokers, at ages <35 years, without a history of prior fetal anomalies were included. The control group consisted of 463 patients with normal serum analyte concentrations and Down syndrome risks below 1:250, who were matched for maternal age and date of biochemical screen. All patients underwent a detailed genetic sonogram in which an anatomic survey and multiple ,soft markers' for aneuploidy were looked for. Newborns were examined by a senior pediatrician trained in dysmorphology. Results MShCG levels were 3.18 ± 0.72 versus 0.99 ± 0.43 MoM (p < 0.0001) in study and control groups respectively. Sonography revealed 8 versus 6 cases of major congenital anomalies among the 463 patients of their respective groups, and 39 versus 36 sonographic ,soft markers' for aneuploidy. Fetal karyotyping and neonatal examination for dysmorphology revealed 6 chromosomal anomalies (4 Down syndrome; 2 Turner syndrome) among the 8 major malformations in the study group, but none in the controls (p < 0.0001). Three of the 39 fetuses with ,soft markers' and elevated MShCG were found to have trisomy 21. Conclusion Isolated elevation of MShCG does not confer an increased risk of fetal congenital anomalies other than chromosomal abnormalities. However, elevated MShCG levels in combination with sonographic ,soft markers' for aneuploidy were associated with a high incidence of chromosomal anomalies, despite a normal biochemical triple screen risk estimate. Copyright © 2005 John Wiley & Sons, Ltd. [source]

A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family

PRENATAL DIAGNOSIS, Issue 4 2003
B. Karaman
Abstract The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family. Copyright © 2003 John Wiley & Sons, Ltd. [source]

Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling

PRENATAL DIAGNOSIS, Issue 8 2002
B. Gilbert
Abstract We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10,months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2002
Nancy Monroy
Abstract Turner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing. The meiotic or mitotic origin of most cases remains unknown due to the difficulty in detecting hidden mosaicism and to the lack of meiotic segregation studies. We analyzed 15 Turner patients, 10 with a 45,X whereas the rest had a second cell line with abnormal X-chromosomes: a pseudodicentric, an isochromosome, one large and one small ring, and the last with a long arm deletion. Our aims were: to detect X cryptic mosaicism in patients with a 45,X constitution; to determine the parental origin of the abnormality; to infer the zygotic origin of the karyotype and to suggest the timing and mechanism of the error(s) leading to the formation of abnormal X chromosomes from maternal origin. Molecular investigation did not revealed heterozygosity for any microsatellite, excluding X mosaicism in the 45,X cases. Parental origin of the single X chromosome was maternal in 90% of these patients. Three of the structurally abnormal Xs were maternally derived whereas the other two were paternal. These results allowed us to corroborate breakpoints in these abnormal X chromosomes and suggest that the pseudodicentric chromosome originated from post-zygotic sister chromatid exchange, whereas the Xq deleted chromosome probably arose after a recombination event during maternal meiosis. © 2001 Wiley-Liss, Inc. [source]

Pustular psoriasis and vitiligo in a patient with Turner syndrome

THE JOURNAL OF DERMATOLOGY, Issue 10 2007
Naoki OISO
No abstract is available for this article. [source]

Genomic imprinting in the development and evolution of psychotic spectrum conditions

BIOLOGICAL REVIEWS, Issue 4 2008
Bernard Crespi
Abstract I review and evaluate genetic and genomic evidence salient to the hypothesis that the development and evolution of psychotic spectrum conditions have been mediated in part by alterations of imprinted genes expressed in the brain. Evidence from the genetics and genomics of schizophrenia, bipolar disorder, major depression, Prader-Willi syndrome, Klinefelter syndrome, and other neurogenetic conditions support the hypothesis that the etiologies of psychotic spectrum conditions commonly involve genetic and epigenetic imbalances in the effects of imprinted genes, with a bias towards increased relative effects from imprinted genes with maternal expression or other genes favouring maternal interests. By contrast, autistic spectrum conditions, including Kanner autism, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests. Imprinted-gene effects on the etiologies of autistic and psychotic spectrum conditions parallel the diametric effects of imprinted genes in placental and foetal development, in that psychotic spectrum conditions tend to be associated with undergrowth and relatively-slow brain development, whereas some autistic spectrum conditions involve brain and body overgrowth, especially in foetal development and early childhood. An important role for imprinted genes in the etiologies of psychotic and autistic spectrum conditions is consistent with neurodevelopmental models of these disorders, and with predictions from the conflict theory of genomic imprinting. [source]

Inconsistent determination of overweight by two anthropometric indices in girls with Turner syndrome

ACTA PAEDIATRICA, Issue 3 2009
Tsuyoshi Isojima
Abstract Aim: To evaluate the prevalence of overweight in girls with Turner syndrome (TS) as classified by the two major anthropometric indices, body mass index (BMI) and weight-for-height (WFH) and to make growth reference charts of them for comparison with those of the normal population. Method: The samples for analysis were obtained from a retrospective cohort. In total, 1447 girls' cross-sectional data were analysed. Subjects were divided into four groups by ages: group A (0,5.99 years), B (6,10.99 years), C (11,15.99 years) and D (16,20.99 years). The cut-off values of overweight by BMI and WFH were those of the 90th percentile and 120 percent, respectively and the prevalence was calculated. For constructing growth reference charts, the LMS method was used. Results: The prevalence of overweight differed between the two indices. The proportions of the coincidental classification in all subjects, group A, B, C and D were 82.53%, 89.96%, 91.79%, 69.98% and 60.61%, respectively. These differences corresponded to the difference of age-dependent patterns of the two indices from those of the normal population, as judged from the growth charts constructed with all subjects. Conclusion: A discrepancy in the prevalence of overweight as classified by BMI and WFH for girls with TS was detected. [source]

Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome

CLINICAL ENDOCRINOLOGY, Issue 1 2010
Jung Min Ko
Summary Objective, Previous studies have reported the effects of parental origin of the X chromosome on specific phenotypic and cognitive profiles in Turner syndrome (TS). Here, we investigate the possible parent-of-origin effects on physical phenotypes and responsiveness to GH in Korean patients with TS. Design and patients, Thirty-three patients with TS with nonmosaic karyotype and their parents participated in this study. The parental origin of the normal X chromosome was determined by comparing parental DNA polymorphisms using nine highly polymorphic microsatellite markers on the X chromosome. For the evaluation of parent-of-origin effects, typical phenotypic traits, including congenital malformations, auxological and endocrinological profiles, were compared. Results, The retained X chromosome was of maternal (Xm) origin in 60·6% patients and paternal (Xp) origin in 39·4% patients. No significant parent-of-origin effects on stature, body mass index, cardiac, renal, skeletal, lymphatic, hearing or ocular systems were evident. We observed no differences in height gain after GH treatment. In patients with the 45,X karyotype, patient height was positively correlated with maternal height in the Xm group (r = 0·60, P = 0·04). Moreover, patient height was more significantly correlated with maternal than paternal height, irrespective of the parental origin of the retained X chromosome. Conclusion, While we observed no significant impact of parental origin of the X chromosome on several phenotypic traits in patients with TS, a maternal imprinting effect on stature was suggested at least in patients with 45,X. Further studies on a larger number of patients with TS are essential to define the potential imprinting effects of undetermined genes on the X chromosome. [source]

Poor uterine development in Turner syndrome with oral oestrogen therapy

CLINICAL ENDOCRINOLOGY, Issue 3 2002
Wendy F. Paterson
Summary OBJECTIVE To evaluate uterine development in Turner syndrome (TS) patients in relation to treatment with oral ethinyl oestradiol (E2) for pubertal induction. DESIGN AND PATIENTS Pelvic ultrasound data for 96 TS patients scanned since 1989 were analysed. Patients were classified into three groups: (1) untreated (n = 48); (2) complete spontaneous puberty (n = 10); and (3) treated with ethinyl oestradiol (n = 38). Uterine development was described in the three groups and compared with the normal data. MEASUREMENTS Uterine length, fundal-cervical ratio (FCR) and shape were recorded, and presence or absence of ovaries noted. In the treated group, cross-sectional and longitudinal data were combined to compare uterine development with Tanner breast stage. RESULTS In untreated girls up to age 10 years there was a variable distribution of uterine length and FCR about the mean. Thereafter, the uterus failed to grow and mature normally. Girls with complete spontaneous puberty had morphologically normal ovaries and uteri, but of 7 girls who attained menarche, 3 subsequently developed secondary oligomenorrhoea or amenorrhoea. In the treated group, in general, breast development and uterine length progressed with increasing E2 dose. However, only 50% of girls with complete secondary sexual development had a mature heart-shaped uterine configuration. CONCLUSIONS Our current E2 treatment regimen for TS girls gives rise to satisfactory pubertal induction and maintenance, but failed to induce a fully mature uterus in half the cohort. In view of the high risk of miscarriage in TS in both spontaneous and assisted pregnancies, the effect of more physiological methods of E2 replacement on uterine development should be investigated. [source]

Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies

PRENATAL DIAGNOSIS, Issue 6 2003
Maria Angelica Zoppi
Abstract Objectives The absence of nasal bone (NB) has been noted in trisomy 21 fetuses at first-trimester ultrasound, in high-risk pregnancies. In this study, the nasal bone was evaluated in relation to fetal karyotype, in unselected pregnancies. Methods From September 2001 to September 2002, the fetal facial profile was examined at the 11 to 14 weeks' scan for screening by nuchal translucency (NT). Risks for trisomy 21 were calculated using the Fetal Medicine Foundation's software, and the presence or absence of NB was noted. Prenatal karyotype and pregnancy outcomes were recorded. Results NT screening was performed in 5532 fetuses from 5425 pregnancies (85 twins, 8 triplets, 2 quadruplets). The visualization of fetal profile was obtained in 5525 fetuses (99.8%), and in 5491 fetuses (99.4%) the NB was present and in 34 cases (0.6%) it was absent. Fetal karyotype and pregnancy outcome were available in 3503 pregnancies, and 40 chromosomal abnormalities were diagnosed (27 trisomies 21, 5 trisomies 18, 2 trisomies 13, 3 Turner syndromes, 1 partial trisomy 9 and 2 others). The NB was absent in 19 (70%) trisomies 21, 4 trisomies 18 (80%), 2 Turner syndromes (66%), in the partial trisomy 9, in 7 normal karyotype fetuses (0.2%), and in a case with spontaneous first-trimester abortion before prenatal diagnosis. A significant difference was found between NT thickness, expressed as a multiple of the median, in trisomy 21 fetuses with present and absent nasal bone. Conclusions The absence of NB at 11 to 14 weeks is more frequent in fetuses with trisomy 21 and other aneuploidies than in normal karyotype fetuses. Copyright © 2003 John Wiley & Sons, Ltd. [source]