14q15q易位携带者中的14三体嵌合体：可能的解离和等臂染色体形成。
Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.
作者信息
Jenkins M B, Kriel R, Boyd L
出版信息
J Med Genet. 1981 Feb;18(1):68-71. doi: 10.1136/jmg.18.1.68.
Abstract
A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q translocation with subsequent formation of a 14q isochromosome.
摘要
本文描述了一例14号染色体长臂嵌合体病例，并与其他三例已报道的类似病例进行了比较。临床表现为严重发育迟缓、生长发育不良以及包括骨骼不对称、高拱腭或腭裂、低位发育不良耳在内的躯体异常。目前的染色体失衡可能是由一个平衡的14号染色体长臂与15号染色体长臂易位解离，随后形成一条14号染色体长臂等臂染色体所致。
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