Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3 -> qter) and partial trisomy 18q (18q23 -> qter) in a fetus associated with cystic hygroma and ambiguous genitalia

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题名:	Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3 -> qter) and partial trisomy 18q (18q23 -> qter) in a fetus associated with cystic hygroma and ambiguous genitalia
作者:	Chen, CP;Chern, SR;Wang, TH;Hsueh, DW;Lee, CC;Town, DD;Wang, WS;Ko, TM
贡献者:	中醫學院中醫系;Mackey Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan;Natl Yang Ming Univ, Sch Nursing, Inst Clin Nursing, Taipei 112, Taiwan;China Med Univ, Coll Chinese Med, Taichung, Taiwan;Chang Gung Mem Hosp, Lin Kou Med Ctr, Dept Obstet & Gynecol, Taoyuan, Taiwan;Chang Gung Mem Hosp, Genom Med Res Core Lab, Taoyuan, Taiwan;Genephile Mol Diagnost Lab, Taipei, Taiwan
日期:	2005
上传时间:	2010-09-24 13:41:59 (UTC+8)
出版者:	JOHN WILEY & SONS LTD
摘要:	Objectives To present the prenatal diagnosis, sonographic findings and, molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera and to review the literature. Clinical Subject and Methods Amniocentesis was performed at 22 weeks' gestation because of sonographic diagnosis of ambiguous genitalia. Initial amniocentesis, repeat amniocentesis, and cordocentesis revealed a mixture of 46,XX cells and 46,XY cells. Polymorphic DNA marker analysis using the fetal and parental blood was applied to investigate the genetic origin of the chimera. A 3,625-g baby was delivered at 37 weeks' gestation with clitoromegaly, prominent labia majora, fusion of the labia, and an orifice of the urogenital sinus. A lymphangioma was noted over the right arm and was excised at age 3 days. Extraembryonic tissues and the infant's skin were cytogenetically and molecularly studied. Results Initial amniocentesis, repeat amniocentesis, and cordocentesis revealed the karyotype of 46,XX[12]/ 46,XY[9], 46,XX[15]/46,XY[12], and 46,XX[27]/46,XY[15], respectively. The cytogenetic results of the extraembryonic tissues and skin were consistent with prenatal diagnosis. Informative sex chromosome and pericentromeric autosome markers demonstrated double paternal and single maternal genetic contributions. Conclusions Prenatal sonographic diagnosis of ambiguous genitalia should alert true hermaphroditism and prompt thorough genetic investigations. DNA marker analysis is helpful in delineation of true fetal chimerism as well as determination of its genetic origin in prenatally detected 46,XX/46,XY chromosome complement. Copyright (c) 2005 John Wiley & Sons, Ltd.
關聯:	PRENATAL DIAGNOSIS 25(6):492-496
显示于类别:	[中醫學系暨碩博班] 期刊論文

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