Open AccessFirst reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
Author(s) -
Støve Heidi Kristine,
Becher Naja,
Gjørup Vibike,
Ramsing Mette,
Vogel Ida,
Vestergaard Else Marie
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.902
Subject(s) - medicine , fetus , microarray analysis techniques , microarray , obstetrics , prenatal diagnosis , pregnancy , genetics , gene , biology , gene expression
Key Clinical Message 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.