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Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.
MedLine Citation:
PMID:  21594604     Owner:  NLM     Status:  Publisher    
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.
Chiara Barone; Giovanni Bartoloni; Antonella Cataliotti; Lara Indaco; Elisa Pappalardo; Barbara Barrano; Giuseppe Ettore; Sebastiano Bianca
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-5-19
Journal Detail:
Title:  Archives of gynecology and obstetrics     Volume:  -     ISSN:  1432-0711     ISO Abbreviation:  -     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-5-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8710213     Medline TA:  Arch Gynecol Obstet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Via Palermo, 636, 95123, Catania, Italy.
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