45, X/46, XX Mosaicism in a Mother and One of Her Discordant Monozygotic Twin Daughters: Report of One Case

中山醫學大學機構典藏 CSMUIR > 醫學科技學院 > 生物醫學科學學系暨碩士班 > 期刊論文 > Item 310902500/3559

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Title:	45, X/46, XX Mosaicism in a Mother and One of Her Discordant Monozygotic Twin Daughters: Report of One Case
Authors:	Pen-Hua Su;Jia-Yuh Chen;Suh-Jen Chen;Huei-Mei Hung;Hung-Chih Ting;Ching-Yi Lin;Yeak-Wen Quek
Contributors:	中山醫學大學:生命科學系
Keywords:	45;X/46;XX mosaicism;Turner syndrome;monozygotic twin;discordant
Date:	2006
Issue Date:	2011-03-14T03:50:30Z (UTC)
Abstract:	Decreased fertility is one of the characteristics of Turner syndrome. Ovarian function in women with Turner syndrome is believed to be impaired because of an abnormal and very rapid maturation of oocytes and follicles. About 30% of mosaic Turner patients have partial ovarian function during puberty, but only 2-5% of them will ever become pregnant. We describe a woman with a mosaic form of Turner syndrome (45,X [6]/46,XX [94] karyotype from blood lymphocytes), who had a spontaneous puberty and normal fertility. After her second pregnancy, she gave birth to a set of monozygotic female twins; Twin B presented with a mild Turner syndrome phenotype and Twin A with a normal female phenotype. Karyotypic analysis performed on amniotic fluid and fetal blood samples demonstrated a normal 46,XX chromosome constitution in Twin A and a 45,X/46,XX mosaicism (27%:73% for amniotic fluid and 6%:94% for fetal blood) in Twin B. Postnatal cytogenetic investigation of blood lymphocytes showed the 45,X [7]/46,XX [93] mosaicism in Twin B. Further investigations of blood lymphocytes in both girls at the age of 4 years showed Twin A with a 46,XX karyotype and Twin B with a 45,X [4]/46,XX [96] mosaicism. The phenotype of twin A had a normal appearance, but webbing of the neck, low posterior hair line, shield chest, and mild psychomotor retardation were evident in Twin B.
URI:	https://ir.csmu.edu.tw:8080/handle/310902500/3559
Relation:	Acta Paediatrica Taiwanica,2006/10/01,pages 278-285
Appears in Collections:	[生物醫學科學學系暨碩士班] 期刊論文

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