Chromosomal Analysis (chromosomal + analysis)

Distribution by Scientific Domains


Selected Abstracts


Cervical lipoblastoma: Case report, review of literature, and genetic analysis

HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 11 2007
Jacob R. Brodsky
Abstract Background. Lipoblastoma is a rare, benign tumor of infants and children, usually occurring in the extremities and trunk, with only a few cases reported in the neck. Methods. We describe the case of an infant with a rapidly enlarging, painless neck mass. MRI revealed a 4-cm-diameter mass deep to the paraspinal muscles, in close proximity to the C2 vertebral foramen. Review of literature, diagnostic methods, and genetics of lipomatous tumors are discussed. Results. Complete surgical excision via a posterior cervical approach demonstrated irregular lobules of immature fat cells separated by a loose, myxoid connective tissue. Histology and genetic analysis confirmed the diagnosis of lipoblastoma. Conclusion. Cervical lipoblastoma is rare, and typically presents as an asymptomatic, painless mass, rarely causing airway obstruction or nerve compression. MRI can be helpful in identifying the lipomatous nature of the mass, but the findings can be inconsistent due to variable maturity of fat cells and the mesenchymal content of the tumor. Chromosomal analysis is useful in differentiating lipoblastoma from liposarcoma. Recommended treatment is complete surgical excision. © 2007 Wiley Periodicals, Inc. Head Neck, 2007 [source]


Biclonal low grade B-cell lymphoma confirmed by both flow cytometry and karyotypic analysis, in spite of a normal kappa/lambda Ig light chain ratio

AMERICAN JOURNAL OF HEMATOLOGY, Issue 6 2007
J.P. Delville
Abstract Composite low grade lymphoma with two subpopulations in a same site is uncommon. We herewith report the case of an 80-year-old woman who presented with isolated bilateral dacryoadenomegaly. Pathological examination of an incisional biopsy of her right lacrimal gland was consistent with a marginal zone lymphoma. Flow cytometry immunophenotyping showed two distinct clonal B-cell populations expressing sIg D lambda or sIg M kappa restriction in the lacrimal gland, blood, and bone marrow. Both B-cells populations were sorted from peripheral blood for molecular biology investigations and comparison with molecular data performed on tumor and bone marrow cells. IgH PCR performed on purified blood populations disclosed two monoclonal peaks: 98 bp-sized peak in the sIg M kappa and a 107 bp in the sIg D lambda clones, respectively. The lacrimal gland tumor expressed mainly sIg M kappa population, and showed a major 98 bp-sized peak coexisting with a very minor 107 bp peak. Cytogenetic studies showed a 46, XX,del (7) (q22q32) karyotype. Bone marrow examination at diagnosis revealed the same B-cell clones distribution than the one observed in blood with a dominant sIg D lambda population, a Genescan profile showing a major peak of 107 bp and a minor peak of 98 bp. Chromosomal analysis disclosed a 46,XX,del (10) (?p14) karyotype without detectable 7q deletion. To our knowledge, this observation represents the first reported case of biclonal low grade lymphoma hidden behind a normal classical kappa/lambda Ig light chain ratio in blood, but clearly demonstrated by the combination of three ancillary techniques (flow cytometry both analytical and cell sorting, molecular biology, and cytogenetics) and analysis of different tissues (i.e., in this case, lacrimal gland biopsy, blood, and bone marrow. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc. [source]


Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence

PRENATAL DIAGNOSIS, Issue 4 2006
Marek Lubusky
Abstract Objectives Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. Methods The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology. Results Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated. Conclusions The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common. Copyright © 2006 John Wiley & Sons, Ltd. [source]


Role of second trimester sonography in detecting trisomy 18: A review of 70 cases

JOURNAL OF CLINICAL ULTRASOUND, Issue 2 2007
Csaba Papp MD
Abstract Purpose. To investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 18. Methods. Out of 22,150 fetal chromosomal analyses performed between 1990 and 2004, 70 trisomy 18 fetuses were found. The sonographic findings of this aneuploidy were analyzed. Results. The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. Major anomalies were seen in 61 (87.1%) of the 70 fetuses with trisomy 18; among these, cardiac anomalies were the most common (47.1%), with a 27.1% incidence of ventricular septal defects. Anomalies of the central nervous system were seen in 35.7% of cases; abnormal head shape was the most frequently detected anomaly in this group (12.9%). Fifty-six (80%) of the fetuses had at least 1 minor anomaly; of these, choroid plexus cyst was the most common (38.6%). Increased nuchal fold thickness was detected in 17.1% of cases. Conclusion. The vast majority of trisomy 18 fetuses have sonographically detectable abnormalities in the second trimester. Both the 87.1% frequency of major anomalies and the 80% frequency of minor anomalies are substantially higher than multiple biochemical marker tests could achieve. It was also demonstrated that fetal echocardiography plays a pivotal role in the diagnosis of trisomy 18. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 35:, 2007 [source]


Mechanism of malsegregations at meiosis: premature centromere separation and precocious division in female Chinese hamsters stimulated with gonadotropic hormones

CONGENITAL ANOMALIES, Issue 3 2000
Shin-ichi Sonta
ABSTRACT, Using female Chinese hamsters stimulated with pregnant mare serum gonadotropin (PMSG) and human chorionic gonadotropin (hCG), we investigated the influence of hormonal stimulation upon meiotic segregation in oocytes. In 1,576 oocytes ovulated spontaneously from 197 non-treated mature females, the number (percentage) of hyperhaploid oocytes with more than 12 (12,14) chromosomes was 16 (1.0%). These cells had no extra single chromatids, but all had extra chromosomes. Single chromatids were seen in 7 (0.4%) cells with a haploid chromosome set. On the other hand, a total of 1,329 and 1,198 second meiotic (MII) oocytes from 64 mature females and 61 immature females stimulated with PMSG and hCG, respectively, were subjected to chromosomal analysis. Single chromatids were seen in 34 (2.6%) and 62 (5.2%) of these oocytes, respectively. Since these chromatids were mostly paired and the sister chromatids existed near each other in many cells, they may have separated from some chromosomes of haploid cells. Compared with the non-treated females, the frequency of cells with single chromatids was significantly greater in oocytes from both mature and immature females stimulated with PMSG and hCG. The number (percentage) of hyperhaploid cells from mature and immature PMSG-hCG-stimulated females, respectively, was 15 (1.1%) and 14 (1.2%), which was not significantly greater than that in non-treated females. Most of these cells had extra whole chromosomes but one oocyte from mature females and one from immature females had an extra single chromatid. These findings indicate that such hormonal stimulation induces premature centromere separation in MII oocytes and precocious division at anaphase I, which can be assumed by the presence of MII cells with extra single chromatids. Considering that no or less hyperhaploid MII oocytes with an extra single chromatid were seen in oocytes from spontaneous ovulation and from artificial ovulation on hormonal stimulation, these findings suggest that the major mechanism of malsegregations at first meiotic (MI) division is not a precocious division but rather, errors such as nondisjunction of homologous chromosomes (dyads). [source]


Ploidy mosaicism in well-developed nuclear transplants produced by transfer of adult somatic cell nuclei to nonenucleated eggs of medaka (Oryzias latipes)

DEVELOPMENT GROWTH & DIFFERENTIATION, Issue 9 2007
Elena Kaftanovskaya
Chromosomal abnormalities such as ploidy mosaicism have constituted a major obstacle to the successful nuclear transfer of adult somatic cell nuclei in lower vertebrates to date. Euploid mosaicism has been reported previously in well-developed amphibian transplants. Here, we investigated ploidy mosaicisms in well-developed transplants of adult somatic cell nuclei in medaka fish (Oryzias latipes). Donor nuclei from primary cultured cells from the adult caudal fin of a transgenic strain carrying the green fluorescent protein gene (GFP) were transferred to recipient nonenucleated eggs of a wild-type strain to produce 662 transplants. While some of the transplants developed beyond the body formation stage and several hatched, all exhibited varying degrees of abnormal morphology, limited growth and subsequent death. Twenty-one transplants, 19 embryos and two larvae, were selected for chromosomal analysis; all were well-developed 6-day-old or later embryonic stages exhibiting slight morphological abnormalities and the same pattern of GFP expression as that of the donor strain. In addition, all exhibited various levels of euploid mosaicism with haploid-diploid, haploid-triploid or haploid-diploid-triploid chromosome sets. No visible chromosomal abnormalities were observed. Thus, euploid mosaicism similar to that observed in amphibians was confirmed in well-developed nuclear transplants of fish. [source]


Intravascular lymphoma associated with systemic lupus erythematosus

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 1 2004
Masanao Naya
Abstract We report a case of systemic lupus erythematosus (SLE) associated with intravascular (angiotropic) lymphoma. A 27-year-old woman had been suffering from uncontrolled severe eruptions for a long time and was admitted because of high fever due to hemophagocytic syndrome (HPS). As her SLE had not been well-controlled by moderate doses of steroids and azathioprine, autoimmune associated HPS was first considered. She was initially treated with steroid pulses and ,-globulin for HPS. However, chromosomal analysis of bone marrow cells revealed severe abnormalities. After malignant lymphoma-associated HPS was diagnosed, chemotherapy was commenced in the intensive care unit with artificial respiration and continuous hemodiafiltration. The patient died of cerebral infarction at day 45. It is suggested that the SLE itself was associated with the development of the intravascular lymphoma rather than due to the azathioprine. [source]


Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010
Vincenzo Mazza
Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source]


Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3,qter) and partial monosomy 17p (p13.3,pter)

PRENATAL DIAGNOSIS, Issue 4 2007
Cem Batukan
Abstract Objective Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. Methods A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed. Results The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3,qter) distal monosomy 17 (p13,pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth. Conclusion This case provides further evidence of a possible association between chromosomal aberrations in SCTs. Copyright © 2007 John Wiley & Sons, Ltd. [source]


Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations

PRENATAL DIAGNOSIS, Issue 10 2003
M. J. Parker
Abstract Objectives To establish precise incidence figures for trisomy 13 and trisomy 18 in the former Trent region, to identify current prenatal diagnostic practice, and to assess the potential impact of the introduction of recently devised prenatal diagnostic practices. Methods An audit of all cases of trisomy 13 and trisomy 18 ascertained through the records of the Trent Congenital Anomalies Register and the Trent Regional Cytogenetic Laboratories. Results Forty-four cases of trisomy 13 and 88 cases of trisomy 18 were ascertained. Advanced maternal age effects were observed. Of all cases, 64% were first detected through chromosomal analysis initiated because of abnormalities noted on fetal anomaly scanning in the second trimester, whereas only 3% of cases were detected through the serum-screening programme currently offered for Down syndrome. In 11% of cases, the diagnosis was first suspected after birth. Twelve percent of couples chose to continue pregnancy following chromosomal confirmation of a suspected diagnosis. Conclusion The introduction of a highly sensitive prenatal diagnostic screening programme would have a major impact on the timing and proportions of all trisomy 13 and 18 cases diagnosed in pregnancy as gauged by current practice. It is important that health professionals involved in prenatal counselling be aware that, as with Down syndrome and anencephaly, around 12% of prospective parents of a child with trisomy 13 or 18 choose to continue rather than terminate the pregnancy. Copyright © 2003 John Wiley & Sons, Ltd. [source]