一名畸形男婴存在12号染色体长臂重复（12q13至q24.2）的嵌合体现象。
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
作者信息
Dixon J W, Costa T, Teshima I E
机构信息
Medical Genetics and Cytogenetics, Wellington Hospital, New Zealand.
出版信息
J Med Genet. 1993 Jan;30(1):70-2. doi: 10.1136/jmg.30.1.70.
Abstract
We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.
摘要
我们报告了一名患有12号染色体q13.1至q24.2重复嵌合体的男孩的临床发现。他的临床特征与先前报道的12号染色体长臂远端重复嵌合体以及几例非嵌合重复病例非常相似。有人提出，这代表了一种临床上可区分的12q重复综合征，包括嵌合型或非嵌合型。
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