| 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 |
Abstract/OtherAbstract:
|
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. |
Authors:
|
Shu-Chin Chien; Chih-Ping Chen; Chyi-Chyang Lin; Li-Chia Huang; Cheng-Tiao Hsieh; Fuu-Jen Tsai |
Related Documents
:
|
21179233 - Clinical and genetic characterization of a danish family with north carolina macular dy... 16476673 - Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalitie... 1686293 - Allelic exchange in escherichia coli using the bacillus subtilis sacb gene and a temper... |
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 |
Affiliation:
|
Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Chromosomes, Human, X Chromosomes, Human, Y Female Genetic Markers* Genitalia, Male* Humans In Situ Hybridization, Fluorescence* Male Pregnancy Prenatal Diagnosis* Sex Chromosome Aberrations* |
| Chemical | |
Reg. No./Substance:
|
0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging ...
Next Document: A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simp...