Partial trisomy 12q: report of a case and review.
نویسندگان
چکیده
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 18 6 شماره
صفحات -
تاریخ انتشار 1981