一名患有6号染色体短臂间质性缺失的患者。
A patient with an interstitial deletion of the short arm of chromosome 6.
作者信息
van Swaay E, Beverstock G C, van de Kamp J J
机构信息
Juliana Children's Hospital, The Hague, The Netherlands.
出版信息
Clin Genet. 1988 Feb;33(2):95-101. doi: 10.1111/j.1399-0004.1988.tb03418.x.
Abstract
The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localized to the breakpoint region involved. A review of similar phenotypes from the literature is presented.
摘要
本文描述了一名患有6号染色体短臂间质性缺失的儿童的临床病史及后续病情发展。这种异常情况与降低的哈格曼因子（因子XII）共同导致了一篇较早的出版物，该出版物表明该基因定位于所涉及的断点区域。本文还对文献中类似的表型进行了综述。
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