Document Detail

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
Related Documents :
149754 - Silver stain reveals nucleolus organizer regions on a satellited yq chromosome.
66304 - Evolution of human cytogenetics: an encyclopedic essay. iii. the second decade after 19...
15958014 - Laser pressure catapulting followed by b actin gene identification in japanese quail ma...
2369844 - Cytogenetics of bisexual/unisexual species of poecilia. i. c-bands, ag-nor polymorphism...
18304894 - Microsatellite markers from the chagas disease vector, rhodnius prolixus (hemiptera, re...
18217684 - Manipulating genes and gene copy number by bacterial artificial chromosomes transfection.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Clear cell adenocarcinoma of the ovary arising in atypical endometriosis: a report of eight cases.
Next Document:  Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal ...