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Archives of Gynecology and Obstetrics

, Volume 284, Issue 2, pp 509–511 | Cite as

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

  • Chiara Barone
  • Giovanni Bartoloni
  • Antonella Cataliotti
  • Lara Indaco
  • Elisa Pappalardo
  • Barbara Barrano
  • Giuseppe Ettore
  • Sebastiano BiancaEmail author
Short Communication

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.

Keywords

45,X/46,XY mosaicism Cleft lip Epispadias Prenatal diagnosed 

Notes

Conflict of interest

None.

References

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Chiara Barone
    • 1
  • Giovanni Bartoloni
    • 2
  • Antonella Cataliotti
    • 1
  • Lara Indaco
    • 1
  • Elisa Pappalardo
    • 3
  • Barbara Barrano
    • 1
  • Giuseppe Ettore
    • 3
  • Sebastiano Bianca
    • 1
    Email author
  1. 1.Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, Dipartimento Materno InfantileARNAS Garibaldi NesimaCataniaItaly
  2. 2.Patologia Diagnostica Malformativa e PerinataleARNAS Garibaldi NesimaCataniaItaly
  3. 3.UOC Ginecologia e Ostetricia, Dipartimento Materno InfantileARNAS Garibaldi NesimaCataniaItaly

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