First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. Issue 5 (17th March 2017)

• Record Type: Journal Article
• Authors: Støve, Heidi Kristine; Becher, Naja; Gjørup, Vibike; Ramsing, Mette; Vogel, Ida; Vestergaard, Else Marie
• Is Part Of: Clinical case reports. Volume 5:Issue 5(2017)
• Page Start: 608
• Page End: 612
• Publication Date: 2017-03-17
• Subjects: Chromosomal microarray -- prenatal diagnosis -- Simpson–Golabi–Behmel syndrome -- X‐linked; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.902
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.