[在一名患有智力障碍及其他异常的携带者儿童中检测到家族性3号与22号染色体易位]
[Familial translocation t(3;22) detected in a carrier child with mental retardation and other abnormalities].
作者信息
Gregori Romero M, Gil Benso R, López Ginés C, Pellín Pérez A, Barberá Guillem E
出版信息
An Esp Pediatr. 1984 Oct 31;21(6):593-6.
PMID:6524770
Abstract
A case of familial translocation t(3;22) (q21;q13) detected through a boy carrier with various functional and phenotypical alterations is described. The caryotype study (G bands) showed that the mother, one maternal aunt, two maternal uncles, and the brother of the proband were likewise carriers of the same translocation. We discuss the type of segregation and the high familial incidence of the translocation.
摘要
本文描述了通过一名具有多种功能和表型改变的男性携带者检测出的一例家族性3号和22号染色体易位t(3;22)(q21;q13)。核型分析（G显带）显示，母亲、一位姨妈、两位舅舅以及先证者的兄弟同样是该易位的携带者。我们讨论了这种易位的分离类型和高家族发病率。
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