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

Støve Heidi Kristine | Zendy; Becher Naja | Zendy; Gjørup Vibike | Zendy; Ramsing Mette | Zendy; Vogel Ida | Zendy; Vestergaard Else Marie | Zendy

Open Access

First 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) - polyhydramnios , medicine , fetus , urinary system , prenatal diagnosis , pregnancy , obstetrics , pediatrics , endocrinology , genetics , biology

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.

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