Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
نویسندگان
چکیده
We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data indicate that the terminal region of the long arm of chromosome 7 contains genes implicated in the development of the central nervous system and the caudal region.
منابع مشابه
Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral age...
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عنوان ژورنال:
- Journal of medical genetics
دوره 30 6 شماره
صفحات -
تاریخ انتشار 1993