Case reports Table Cases offamilial translocations with aneuploidy not involving translocated chromosomes
نویسندگان
چکیده
relationship between the two chromosomal aberrations. To our knowledge, the present case is the first report of Turner's syndrome with a familial balanced translocation not involving the X chromosome. Turner's syndrome occurs in about 1 in 6800 live births. Cases with balanced translocations occur in about 1 in 500 live births and most cases originate from familial translocation carriers (Bochkov et al., 1974; Hamerton et al., 1975; Nielsen and Sillesen, 1975). Hence, the expected likelihood of both abnormalities occurring in the same female should be about 1 in 3 400 000 live births through chance alone. From a similar calculation the expected occurrence of Down's syndrome, Klinefelter's syndrome, and 18 trisomy syndrome with a familial balanced translocation should be about 1 in 350 000,
منابع مشابه
Use of chromosomal translocations with in situ DNA hybridisation to confirm localisation of human 5S ribosomal RNA genes.
Two cases of chromosomal translocations involving the long arm of chromosome 1 were investigated for 5S ribosomal gene localisation using in situ hybridisation. In the first family, there was an interstitial translocation of 1q25-32 to chromosome 5; the 5S genes remained on chromosome 1. In the second family, there was a translocation of 1q42-44 to chromosome 21q12; the 5S gene locus in this ca...
متن کاملPossible interchromosomal effect in embryos generated by gametes from translocation carriers.
BACKGROUND The incidence of abnormal pregnancies in carriers of balanced translocations depends strictly on the chromosomes involved in the translocations. The aim of this study was to verify whether conventional aneuploidy screening could be advantageously combined with preimplantation genetic diagnosis (PGD) for translocations. METHODS Twenty-eight carriers of Robertsonian and reciprocal tr...
متن کاملChromosomal translocations with specific breakpoints in asbestos-induced rat mesotheliomas.
Cytogenetic analysis was conducted on cells of 15 rat mesotheliomas induced in rats by the i.p. inoculation of crocidolite or chrysotile asbestos. These tumor cells were diploid, triploid, or tetraploid. All tumor lines exhibited aneuploidy and marker chromosomes. Loss of at least one copy of the X chromosome was observed in each of the tumors analyzed, and loss of copies of chromosomes 8, 16, ...
متن کاملChromosomal Translocations with Specific Breakpoints in Asbestos-induced Rat Mesotheliomas1
Cytogenetic analysis was conducted on cells of 15 rat mesotheliomas induced in rats by the i.p. inoculation of crocidolite or chrysotile asbestos. These tumor cells were diploid, triploid, or tetraploid. All tumor lines exhibited aneuploidy and marker chromosomes. Loss of at least one copy of the X chromosome was observed in each of the tumors analyzed, and loss of copies of chromosomes 8, 16, ...
متن کاملAneuploidy 12 in a Robertsonian (13;14) carrier: Case report.
In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CG...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2004