First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
| Autor: | Mette Ramsing, Naja Becher, Heidi Kristine Støve, Ida Vogel, V. Gjørup, Else Marie Vestergaard |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Polyhydramnios Microarray Urinary system Prenatal diagnosis Case Report Case Reports 030105 genetics & heredity Simpson–Golabi–Behmel syndrome 03 medical and health sciences Female fetus Internal medicine medicine Journal Article Fetus prenatal diagnosis Obstetrics business.industry General Medicine medicine.disease X‐linked 030104 developmental biology Endocrinology Chromosomal microarray business |
| Zdroj: | Støve, H K, Becher, N, Gjørup, V, Ramsing, M, Vogel, I & Vestergaard, E M 2017, ' First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray ', Clinical Case Reports, vol. 5, no. 5, pp. 608-612 . https://doi.org/10.1002/ccr3.902 Clinical Case Reports |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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