Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
نویسندگان
چکیده
We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 34 9 شماره
صفحات -
تاریخ انتشار 1997