Origin of the additional chromosome in Down's syndrome: a study of 20 families.
نویسندگان
چکیده
In 20 families with a Down's syndrome child, heteromorphism of chromosome 21 was sought in the parents and proband. Information on the meiotic division and the parent of origin was given in 16 families, the majority of errors being maternal in origin, predominantly at meiosis I, though the paternal contribution is also appreciable. Probabilities of parental and meiotic division origin are calculated.
منابع مشابه
بررسی ژنتیکی ریزماهواره‌های کروموزوم 21 در جمعیت آذربایجان‌شرقی و کاربرد آن‌ها در تشخیص مبتلایان به سندروم داون
Background & Objective: Down syndrome is one of the most common chromosome aneuploidies causing mental retardation which occurs in approximately 1/230 pregnancies. It is usually caused by the presence of an extra chromosome 21. The aim of this study was to evaluate the simple PCR based DNA diagnostic method and also to determine the parental origin of the extra chromosome 21 in trisomal Down sy...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 5 شماره
صفحات -
تاریخ انتشار 1980