We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an u...

Beckwith-Wiedemann syndrome (BWS), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to Wilms's tumour (WT) and other malignancies, has been mapped to 11p15. The association with 11p15 duplications of paternal origin, of balanced translocations and inversions with breakpoints within 11p15.4-p15.5 of maternal origin, and the demonstration of unipar...

Carriers of completely balanced chromosomal translocations have all necessary genetic information. Nevertheless, because of the possibility of maldistribution during gametogenesis, they are at increased risk for infertility, miscarriage, stillbirth or having a child with congenital anomalies including mental retardation. As postnatal clinical reports are infrequent, prediction of clinical cours...

Chromosomal translocations frequently involve fusion of the ends of two separate DNA double-stranded breaks (DSBs) at distinct genomic locations. Recurrent chromosomal translocations are found in various cancers. Recently developed high-throughput approaches to clone genome-wide translocations that involve site-specifi c DSBs have provided new insights into mechanisms of chromosomal translocati...

Chromosomal translocations are primary events in tumorigenesis. Those involving the mixed lineage leukaemia (MLL) gene are found in various guises and it is unclear whether MLL fusions can affect haematopoietic differentiation. We have used a model in which chromosomal translocations are generated in mice de novo by Cre-loxP-mediated recombination (translocator mice) to compare the functionally...

introduction: robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. in this report, we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions. case presentation: a couple with the complaint of repeated abortions was admitted in the...

Maize B-A translocations result from reciprocal interchanges between a supernumerary B chromosome and an arm of an essential A chromosome. Because of the frequent nondisjunction of the B centromere at the second pollen mitosis, B-A translocations have been used to locate genes to chromosome arms and to study the dosage effects of specific A segments. Compound B-A translocations (B-A-A transloca...

The distribution of the points of breakage and reunion of a series of 58 Robertsonian translocations, 53 reciprocal translocations, and 10 inversions is described. An excess of 13/14 and 14/21 rearrangements was found among the Robertsonian translocations, this excess being independent of the method of ascertainment of the proband. The distribution of break points between chromosome arms in the...

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...