A family with two translocations and a polymorphism involving chromosome 14.
نویسندگان
چکیده
KEY II X Deadinferred carrier Q Chromosomes normal a couple who presented at a sub-fertility clinic with a history of two spontaneous abortions and no live born children after three years of marriage. Examination revealed a healthy 23-year-old female and a 27-year-old male, neither of whom had any previous relevant medical history. In addition to the two original spontaneous abortions, at 8 and 10 weeks respectively, the couple had a subsequent
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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...
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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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عنوان ژورنال:
- Journal of medical genetics
دوره 11 1 شماره
صفحات -
تاریخ انتشار 1974