18三体和13三体的临床经验。
Clinical experience with trisomies 18 and 13.
作者信息
Hodes M E, Cole J, Palmer C G, Reed T
出版信息
J Med Genet. 1978 Feb;15(1):48-60. doi: 10.1136/jmg.15.1.48.
Abstract
The clinical, cytogenetic, dermatoglyphic, and postmortem observations of the 29 cases of trisomy 18 and 19 cases of trisomy 13 seen in the Department of Medical Genetics from 1963-76 are summarised. Chromosomes were studied in all and 30 were banded. One patient had tertiary trisomy 18 and 8 had translocations of chromosome 13. The features of these patients are described and the syndromes compared with each other and summaries found in the literature.
摘要
总结了1963年至1976年医学遗传学系所见的29例18三体综合征患者和19例13三体综合征患者的临床、细胞遗传学、皮纹学及尸检观察结果。对所有患者均进行了染色体研究，其中30例进行了染色体显带分析。1例患者为18号染色体三级三体，8例患者有13号染色体易位。描述了这些患者的特征，并将这两种综合征相互比较，同时与文献中的总结进行了对比。
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