First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

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...

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Bibliographic Details
Published inClinical case reports Vol. 5; no. 5; pp. 608 - 612
Main Authors Støve, Heidi Kristine, Becher, Naja, Gjørup, Vibike, Ramsing, Mette, Vogel, Ida, Vestergaard, Else Marie
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.05.2017
John Wiley and Sons Inc
Subjects
Case Report
Case Reports
Chromosomal microarray
Fetuses
prenatal diagnosis
Simpson–Golabi–Behmel syndrome
X‐linked
X‐linked
Chromosomal microarray
Simpson–Golabi–Behmel syndrome
prenatal diagnosis
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.902