Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias
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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.
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.
Keywords45,X/46,XY mosaicism Cleft lip Epispadias Prenatal diagnosed
Conflict of interest