D 部分三体：诊断与细胞遗传学难题。
Partial trisomy D: a diagnostic and cytogenetic dilemma.
作者信息
Cohen M M, Rosenmann A, Dagan J, Legum C
出版信息
J Med Genet. 1976 Dec;13(6):535-8. doi: 10.1136/jmg.13.6.535.
Abstract
An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.
摘要
本文报告了一名患有精神运动发育迟缓及其他先天性异常的18个月大先证者。父母的染色体分析均正常。然而，先证者的淋巴细胞和培养的成纤维细胞的核型均含有47条染色体。标记染色体被证实为14号或15号染色体缺失。对已报道的部分D三体病例的比较表明，两种情况下均未出现明确的临床综合征。
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