新发平衡易位：46，XX，t(13;20)(q34;p11)。
De novo balanced translocation: 46, XX, t(13;20)(q34;p 11).
作者信息
Marinescu D D, Cioltei A, Pop T, Ioan D, Maximilian C
出版信息
Endocrinologie. 1978 Oct-Dec;16(4):295-8.
PMID:734345
Abstract
The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.
摘要
作者报告了一个家庭，其中父亲患有掌骨短缩和跖骨短缩，母亲有13/20易位。一名婴儿出生时伴有多种畸形，类似于20号染色体短臂三体综合征。文中讨论了该易位的遗传后果。
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