One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46,...

The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between an...

The most significant complication of pregnancy is recurrent miscarriage. Numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects. Cytogenetic evaluation of couples with recurrent pregnancy losses is performed on the basis of G-banding technique only after other possible et...

The indications and results of cytogenetic analysis of 521 amniotic cell cultures performed at 13-16 weeks of gestation were evaluated in this study. 507 fetuses (97.3%) were cytogenetically normal, 14 (2.7%) had unbalanced karyotypes, and 2 fetuses were found to have major abnormalities, one with anencephaly detected by measurement of alpha -fetoprotein levels in amniotic fluid and ultraso...

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...

PURPOSE To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. METHODS Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. RESULTS Embryonal cataracts cosegregated through three generations with a balanced chromoso...

All mature B-cell leukaemias and lymphomas have a clonal Ig gene recombination, and half of them have a reciprocal chromosomal translocation involving the 14q32 locus. The 14q32 translocation partners are variable, such as BCL-2, BCL-1 and BCL-6, thus accounting for the difficulty in molecular detection by the current genomic polymerase chain reaction (PCR) method. To identify B-cell clones eff...

Down syndrome (mongolism) is one of the commonest chromosomal abnormalities in man with an incidence of between 1 and 2 per 1000 live births. In Northern Ireland the incidence is 1 in 6301. About 95 per cent have 47 instead of 46 chromosomes with an extra chromosome 21 (Trisomy 21). A small proportion , between 2 and 5 per cent are due to an unbalanced chromosomal translocation, usually involvi...

Chromosomal translocation is one mechanism by which cellular oncogenes may be activated during tumorigenesis. The translocation of the abl oncogene to the Philadelphia chromosome in chronic myelogenous leukemia (CML) results in a new RNA transcript that fuses sequence from chromosome 22 to sequence from the abl oncogene. This RNA presumably codes for a new abl-related protein product found in C...