The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy

Authors:	Bogdan Kałuzewski Danuta Podkul Irena Zaborowska Teresa Moruzgała Lucjusz Jakubowski

Affiliation:	(1) Laboratory of Genetics, Institute of Endocrinology, Medical Academy in ód, Sterling 3, 91-425 ód, Poland;(2) Department of Child Neurology of the J. Korczak Hospital, 90-329 ód, Poland

Abstract:	Summary A 3-year-old boy from twin pregnancy with the features of marked dystrophia from birth, deficient growth, considerable retardation of physical and mental development, numerous somatic defects, suspected congenital heart disease, and hypoplastic external genitalia, is reported. The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) karyotype was diagnosed. The boy's brother, normally developed, had a 46,XY karyotype. It was found on the basis of serologic findings that the brothers were dizygotic twins.

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