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- Title
Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.
- Authors
Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano
- Abstract
<bold>Introduction: </bold>45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies. <bold>Materials and Methods: </bold>We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences. <bold>Conclusion: </bold>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.
- Subjects
PRENATAL diagnosis; CLEFT lip; MOSAICISM; EPISPADIAS; VIRILISM; URETHRA abnormalities; PREGNANCY complications
- Publication
Archives of Gynecology & Obstetrics, 2011, Vol 284, Issue 2, p509
- ISSN
0932-0067
- Publication type
journal article
- DOI
10.1007/s00404-011-1928-4