Two Robertsonian translocations in a boy with mental retardation.
نویسندگان
چکیده
منابع مشابه
عقب‌ماندگی ذهنی مرتبط با ناهنجاری کروموزومی در یک خانواده ایرانی: گزارش سه مورد
Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded childr...
متن کاملD-D translocations in males examined for military service.
Three males with Robertsonian translocations were found in a sample of 1115 males examined for military service. One was a 14/15 translocation, and two were 13/14 translocations. One was spontaneous and two familial. The segregation rate of the translocations did not deviate significantly from unity in the sibships where the mother was the carrier, whereas all five children had the translocatio...
متن کاملThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
متن کاملMeiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases.
BACKGROUND The t(14;22) remains one of the rare Robertsonian translocations observed in human, with an occurrence estimated at 1.2%. Three cases of rare Robertsonian translocation t(14;22) were investigated for meiotic segregation in sperm samples from male carriers using the fluorescent in situ hybridization (FISH) procedure. The three carriers included two men with an abnormal semen analysis ...
متن کاملEvidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.
Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subf...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 3 شماره
صفحات -
تاریخ انتشار 1982