3q三体：两例临床症状相似但细胞遗传学特征不同的病例。
Trisomy 3q : two clinically similar but cytogenetically different cases.
作者信息
Mulcahy M T, Pemberton P J, Sprague P
出版信息
Ann Genet. 1979;22(4):217-20.
PMID:317784
Abstract
The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome 3 are described and discussed in relation to previously reported cases and the existence of a distinct syndrome of trisomy 3q is confirmed. Assignment of the gene for human red blood cell galactose-1-uridyltransferase is discussed.
摘要
本文描述并讨论了两名不相关婴儿的临床和细胞遗传学发现，这两名婴儿均为3号染色体长臂不同数量的三体。文中就此前报道的病例进行了分析，并证实了3q三体存在一种独特的综合征。还讨论了人类红细胞半乳糖-1-尿苷基转移酶基因的定位。
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