Document Detail

Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review.
MedLine Citation:
PMID:  19797023     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of mos45,X/46,X,+mar. In addition, the cases with prenatally detected mos45,X/ 46,X,del(Y)(q11.2) and normal male external genitalia are reviewed. CASE REPORT: A 30-year-old, primigravid woman was referred for amniocentesis because of an abnormal Down syndrome screening result at 20 weeks' gestation. Cytogenetic analysis showed mos45,X/46,X,+mar without a normal Y chromosome. Prenatal ultrasound detected symmetric intrauterine growth restriction and normal male external genitalia. After termination of the pregnancy, a phenotypically normal male fetus was delivered smoothly without apparent structural defects. Based on conventional G-banded analysis, the marker chromosome appeared as a Y chromosome that originated with a deleted Yq, designated as del(Y)(q11.2). CONCLUSION: Based on a literature review, the addition of fluorescence in situ hybridization and molecular analysis to the conventional cytogenetic techniques can provide more accurate identification of a Y chromosome aberration in the prenatal detection of mos45,X/46,X,+mar, thus allowing more appropriate genetic counseling for the family.
Shu-Chin Chien; Chih-Ping Chen; Chyi-Chyang Lin; Li-Chia Huang; Cheng-Tiao Hsieh; Fuu-Jen Tsai
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Taiwanese journal of obstetrics & gynecology     Volume:  48     ISSN:  1875-6263     ISO Abbreviation:  -     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-10-02     Completed Date:  2009-12-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101213819     Medline TA:  Taiwan J Obstet Gynecol     Country:  China    
Other Details:
Languages:  eng     Pagination:  292-5     Citation Subset:  IM    
Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
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MeSH Terms
Chromosomes, Human, X
Chromosomes, Human, Y
Genetic Markers*
Genitalia, Male*
In Situ Hybridization, Fluorescence*
Prenatal Diagnosis*
Sex Chromosome Aberrations*
Reg. No./Substance:
0/Genetic Markers

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

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