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Start Over Author "Gjørup, Vibike" Topic chromosomal microarray
1 results on '"Gjørup, Vibike"'

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

Author

Støve, Heidi Kristine, Becher, Naja, Gjørup, Vibike, Ramsing, Mette, Vogel, Ida, and Vestergaard, Else Marie

Subjects
FETAL macrosomia, URINARY tract infections, FETUS, URINARY organ diseases, EMBRYOLOGY
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 FROM AUTHOR]

Published
2017
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