Document Detail

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
MedLine Citation:
PMID:  16521154     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: 1. To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the Y chromosome.2. To review the literature and provide recommendations for cytogenetic analysis and counseling. METHODS: Prenatal and postnatal cytogenetic data and clinical findings of isodicentric Yp ascertained in six institutions were gathered and reviewed. RESULTS: Nine of the twelve cases were referred for advanced maternal age (AMA), one of which was a twin pregnancy with one twin having an increased nuchal translucency measurement. The remaining cases were referred owing to a family history of hemophilia and an abnormal maternal serum screen, respectively. Nine of these pregnancies resulted in the birth of a normal-appearing male infant with subsequent normal growth and psychomotor development. Follow-up ranged from birth to 7 years. In two cases, the pregnancy was terminated and the fetuses showed male external genitalia. In the case ascertained because of an increased nuchal translucency measurement, the prenatal diagnosis of 45,X was made. At birth, there were ambiguous genitalia, and postnatal cytogenetic studies found an isodicentric Yp. In 11 of the 12 cases, mosaicism was present. CONCLUSION: Our cases show that the prenatal finding of an isodicentric Yp, with or without 45,X mosaicism, is compatible with normal male phenotype in most cases, particularly in the absence of other anomalies. To ensure accuracy in cytogenetic reporting and prenatal counseling, the identification of a structurally abnormal or small Y chromosome, either alone or in the presence of 45,X colonies, should be followed immediately by confirmatory molecular cytogenetic investigations as well as by ultrasound determination of the phenotypic sex of the fetus.
H Bruyère; M D Speevak; E J T Winsor; B de Fréminville; S A Farrell; J McGowan-Jordan; B McGillivray; D Chitayat; D McFadden; V Adouard; D Terespolsky; F Prieur; T Pantzar; M Hrynchak
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Apr 
Date Detail:
Created Date:  2006-04-03     Completed Date:  2006-08-18     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  324-9     Citation Subset:  IM    
Copyright Information:
Copyright 2006 John Wiley & Sons, Ltd.
Department of Pathology and Laboratory Medicine, Vancouver University of British Columbia, Vancouver, BC, Canada.
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MeSH Terms
Chromosomes, Human, X / genetics
Chromosomes, Human, Y / genetics*
Cytogenetic Analysis
Genetic Counseling
Genitalia, Male
Maternal Age
Nuchal Translucency Measurement
Prenatal Diagnosis*
Sex Chromosome Aberrations / embryology*
Turner Syndrome

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

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