Korean J Perinatol.
1998 Dec;9(4):434-439.
A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound
Abstract
- Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.
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