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Case Reports
. 2011 Aug;284(2):509-11.
doi: 10.1007/s00404-011-1928-4. Epub 2011 May 19.

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias

Chiara Barone  1 , Giovanni Bartoloni, Antonella Cataliotti, Lara Indaco, Elisa Pappalardo, Barbara Barrano, Giuseppe Ettore, Sebastiano Bianca
Affiliations
Case Reports

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias

Chiara Barone et al. Arch Gynecol Obstet. 2011 Aug.

Abstract

Introduction: 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.

Materials and methods: We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences.

Conclusion: 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.

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