一名来自双胎妊娠的3岁男孩存在48,XXXX/49,XXXXY/49,XXXX,i(Yq)嵌合体。
The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy.
作者信息
Kaluzewski B, Podkul D, Zaborowska I, Moruzgala T, Jakubowski L
出版信息
Hum Genet. 1977 Jul 26;37(3):355-9. doi: 10.1007/BF00393620.
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.
报告了一名来自双胎妊娠的3岁男孩，自出生起就有明显的营养不良、生长发育迟缓、身心发育显著滞后、众多躯体缺陷、疑似先天性心脏病以及外生殖器发育不全等特征。诊断其核型为48,XXXX/49,XXXXY/49,XXXX,i(Yq)。该男孩的兄弟发育正常，核型为46,XY。根据血清学检查结果发现，这对兄弟为异卵双胞胎。
Zotero 插件