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[由9号染色体易位导致唐氏综合征风险增加的家族的鉴定]

[Identification of families with increased risk of Down's syndrome caused by translocation of chromosome 9].

作者信息

Rogóyski A, Babel M

出版信息

Pediatr Pol. 1989 Apr;64(4):209-15.

PMID:2534166
Abstract

Between 1976 and 1985 in the Genetic Out-patient Department Down's syndrome was found in 260 children. In 235 children it was a result of numerical aberration, in 15 children it was a result of structural aberration (unbalanced translocation in 21 chromosome)--in 7 children t(21q21q), in 6 children t(14q21q), in 2 children t(21q22q). In 3 children translocation was transmitted by one of the parents. The performed cytogenetic examination have allowed to find out the translocation carriers in these families. So there was a possibility to identify a whole series of families with an increased risk of Down's syndrome even before the birth of child with Down's syndrome. Concerned families were informed about the possibilities of prenatal diagnosis.

摘要

1976年至1985年间,在遗传门诊部发现了260例唐氏综合征患儿。其中235例是由数目畸变导致的,15例是由结构畸变(21号染色体不平衡易位)导致的——7例为t(21q21q),6例为t(14q21q),2例为t(21q22q)。3例患儿的易位是由父母一方遗传而来。所进行的细胞遗传学检查得以在这些家庭中找出易位携带者。因此,甚至在唐氏综合征患儿出生之前,就有可能识别出一系列患唐氏综合征风险增加的家庭。相关家庭被告知产前诊断的可能性。

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