title: Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.
abstract: BACKGROUND
  45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.
  
  
  METHODS
  We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences.
  
  
  CONCLUSIONS
  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.
authors: Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Via Palermo, 636, 95123 Catania, Italy.
authors: Chiara
authors: C
authors: Barone
authors: Giovanni
authors: G
authors: Bartoloni
authors: Antonella
authors: A
authors: Cataliotti
authors: Lara
authors: L
authors: Indaco
authors: Elisa
authors: E
authors: Pappalardo
authors: Barbara
authors: B
authors: Barrano
authors: Giuseppe
authors: G
authors: Ettore
authors: Sebastiano
authors: S
authors: Bianca