Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).
نویسندگان
چکیده
A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.
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...
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متن کاملReproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 15 2 شماره
صفحات -
تاریخ انتشار 1978