一例环状Y染色体病例。
A case of ring Y chromosome.
作者信息
Taillemite J L, van den Akker J, Portnoi M F, Le Porrier N, Marmor D, Bouillie J, Roux C
出版信息
Hum Genet. 1978 May 16;42(1):89-91. doi: 10.1007/BF00291630.
PMID:649173
Abstract
Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
摘要
在一名患有外生殖器模糊、泌尿生殖窦、阴道、子宫和输卵管的儿童中，通过荧光鉴定出环形Y染色体45,X/46,X,r(Y)。性腺活检发现有睾丸组织。
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