一名新生女婴3q部分三体综合征。
Partial trisomy 3q in a newborn female.
作者信息
De Marchi M, Zuffardi O, Carozzi F, Schmid W, Carbonara A O
出版信息
Ric Clin Lab. 1977 Jul-Sep;7(3):225-32. doi: 10.1007/BF02881818.
PMID:605339
Abstract
Partial trisomy 3q was observed in a newborn female with multiple malformations, who died in the first month of life. A balanced translocation t(3q--;15p+) was present in the mother and in other family members. The correlation between the cytogenetical and the clinical aspects is briefly discussed.
摘要
在一名患有多种畸形的新生女婴中观察到3q部分三体，该女婴在出生后第一个月死亡。母亲和其他家庭成员存在平衡易位t(3q--;15p+)。本文简要讨论了细胞遗传学与临床特征之间的相关性。
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