21号环状染色体。一名女婴的观察结果。
Ring chromosome 21. Observation in a female infant.
作者信息
Carlo Stella N, Barberi I, Corrado F, Triolo O
出版信息
Ann Genet. 1984;27(4):249-51.
PMID:6335374
Abstract
A case of a female infant with karyotype 46,XX,r(21)/45,XX,-21 is reported. From comparison of the phenotypic anomalies with the other similar cases the large variability of the 21q- syndrome is evident.
摘要
报告了一例核型为46,XX,r(21)/45,XX,-21的女婴病例。通过将该病例的表型异常与其他类似病例进行比较，21q-综合征的巨大变异性显而易见。
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