同一患者出现2号染色体长臂三体和11号染色体长臂单体：考虑缺失片段的重要性。

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.

作者信息

Ardinger H H, Patil S R, Rhead W J

出版信息

Clin Genet. 1987 Jun;31(6):381-5. doi: 10.1111/j.1399-0004.1987.tb02828.x.

DOI:10.1111/j.1399-0004.1987.tb02828.x

Abstract

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.

摘要

一名具有多种畸形特征和发育迟缓的女婴被发现其2号染色体长臂部分重复，11号染色体长臂部分缺失，源自父亲的平衡易位，核型为46,XY,t(2;11)(q33:q25)。临床上，该婴儿具有2q+和11q-综合征的特征。强调了在家族性易位产生的不平衡产物中同时考虑重复和缺失片段的重要性。