Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias
| Autor: | Barbara Barrano, Chiara Barone, Giuseppe Ettore, Lara Indaco, Elisa Pappalardo, Antonella Cataliotti, Giovanni Bartoloni, Sebastiano Bianca |
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| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Epispadias Cleft Lip 45 X/46 XY mosaicism Cleft lip · Prenatal diagnosed Prenatal diagnosis Chromosomal anomaly Ultrasonography Prenatal medicine Humans X/46 Abnormalities Multiple Gynecology XY mosaicism Mosaicism business.industry Obstetrics and Gynecology General Medicine medicine.disease Fetal Diseases business |
| Zdroj: | Archives of Gynecology and Obstetrics. 284:509-511 |
| ISSN: | 1432-0711 0932-0067 |
| DOI: | 10.1007/s00404-011-1928-4 |
| Popis: | 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences.Our case, with an uncommon association of congenital anomalies, stresses the difficulty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect. |
| Databáze: | OpenAIRE |
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