First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal
Heidi Kristine Støve1, Naja Becher1, Vibike Gjørup2
1Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
Abstract:
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.
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