唐氏综合征中的染色体嵌合现象：一项诊断挑战。
Chromosomal mosaicism in Down's syndrome: a diagnostic challenge.
作者信息
Ladda R L, Maisels M J, Dossett J H, Dobelle Y
出版信息
Dev Med Child Neurol. 1977 Oct;19(5):668-72. doi: 10.1111/j.1469-8749.1977.tb08001.x.
Abstract
In individuals with mosaicism for trisomy 21, phenotype-karyotype correlations are unpredictable. Two patients are described--one with typical features of Down's syndrome and the other with severe mental retardation only. Both had normal karyotypes in their peripheral lymphocytes but high percentages of trisomic cells in skin fibroblasts.
摘要
在21三体嵌合体个体中，表型与核型的相关性是不可预测的。本文描述了两名患者，一名具有典型的唐氏综合征特征，另一名仅患有严重智力迟钝。两人外周血淋巴细胞的核型均正常，但皮肤成纤维细胞中三体细胞的比例很高。
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