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

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...

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Detalles Bibliográficos
Autores principales: Støve, Heidi Kristine, Becher, Naja, Gjørup, Vibike, Ramsing, Mette, Vogel, Ida, Vestergaard, Else Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412752/
https://www.ncbi.nlm.nih.gov/pubmed/28469860
http://dx.doi.org/10.1002/ccr3.902
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author Støve, Heidi Kristine
Becher, Naja
Gjørup, Vibike
Ramsing, Mette
Vogel, Ida
Vestergaard, Else Marie
author_facet Støve, Heidi Kristine
Becher, Naja
Gjørup, Vibike
Ramsing, Mette
Vogel, Ida
Vestergaard, Else Marie
author_sort Støve, Heidi Kristine
collection PubMed
description 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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spelling pubmed-54127522017-05-03 First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray Støve, Heidi Kristine Becher, Naja Gjørup, Vibike Ramsing, Mette Vogel, Ida Vestergaard, Else Marie Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-03-17 /pmc/articles/PMC5412752/ /pubmed/28469860 http://dx.doi.org/10.1002/ccr3.902 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Støve, Heidi Kristine
Becher, Naja
Gjørup, Vibike
Ramsing, Mette
Vogel, Ida
Vestergaard, Else Marie
First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title_full First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title_fullStr First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title_full_unstemmed First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title_short First reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
title_sort first reported case of simpson–golabi–behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412752/
https://www.ncbi.nlm.nih.gov/pubmed/28469860
http://dx.doi.org/10.1002/ccr3.902
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