一条部分确定的额外标记染色体中组成型异染色质缺失。
Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.
作者信息
Pai G S, Thomas G H, Benke P J
出版信息
J Med Genet. 1981 Oct;18(5):392-4. doi: 10.1136/jmg.18.5.392.
Abstract
A retarded child with multiple malformations was found to have a karyotype 47,XY,de1(11)(11 pter leads to q21:), +mar(11 qter leads to q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterchromatin in phenotypic effects are discussed.
摘要
一名患有多种畸形的智力发育迟缓儿童被发现其核型为47，XY，del(11)(11pter→q21:), +mar(11qter→q21::?)。有丝分裂稳定的着丝粒标记物未显示出明显的C组异染色质。讨论了表型-核型相关性以及C组异染色质在表型效应中的作用。
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