一名6号染色体长臂21区至末端三体综合征的婴儿。
An infant with trisomy 6q21 leads to 6qter.
作者信息
Neu R L, Gallien J U, Steinberg-Warren N, Wynn R J, Bannerman R M
出版信息
Ann Genet. 1981;24(3):167-9.
PMID:6974528
Abstract
A female who died shortly after birth with multiple congenital anomalies corresponding to the clinical picture of partial 6q trisomy is described and the autopsy findings are presented. The patient had an unbalanced chromosome complement with a 6q21 leads to 6qter duplication. Her mother is a balanced 46,XX,t(6;10)(q21;q26) carrier.
摘要
本文描述了一名出生后不久即死亡的女性，其患有多种先天性异常，符合部分6号染色体长臂三体的临床表现，并展示了尸检结果。该患者染色体组成不平衡，存在6号染色体长臂21区至末端的重复。她的母亲是一名染色体平衡的46,XX,t(6;10)(q21;q26)携带者。
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