PRENATAL DIAGNOSIS OF MOS45,X/46,X,+MAR IN A FETUS WITH NORMAL MALE EXTERNAL GENITALIA AND A LITERATURE REVIEW

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/8219

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Title:	PRENATAL DIAGNOSIS OF MOS45,X/46,X,+MAR IN A FETUS WITH NORMAL MALE EXTERNAL GENITALIA AND A LITERATURE REVIEW
Authors:	Chien, SC (Chien, Shu-Chin);Chen, CP (Chen, Chih-Ping);Lin, CC (Lin, Chyi-Chyang);Huang, LC (Huang, Li-Chia);Hsieh, CT (Hsieh, Cheng-Tiao);Tsai, FJ (Tsai, Fuu-Jen)
Contributors:	Department of Biotechnology
Keywords:	chromosome aberrations;mos45,X/46,X,+mar;prenatal diagnosis;sex differentiation
Date:	2009-09
Issue Date:	2010-03-26 02:29:07 (UTC+0)
Publisher:	Asia University
Abstract:	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. [Taiwan J Obstet Gynecol 2009;48(3):292-295]
Relation:	TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY 48 (3): 292-295
Appears in Collections:	[生物科技學系] 期刊論文

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