额外的小中着丝粒染色体被鉴定为i(18p)。
Extra small metacentric chromosome identified as i(18p).
作者信息
Rocchi M, Stormi M, Archidiacono N, Filippi G
出版信息
J Med Genet. 1979 Feb;16(1):69-73. doi: 10.1136/jmg.16.1.69.
Abstract
A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect.
摘要
本文描述了一例出生时诊断出的额外的近中着丝粒小染色体病例。细胞遗传学检查结果支持将其鉴定为i(18p)。报告了该病例从出生到12个月的临床发育情况，特别关注了精神运动发育迟缓及免疫学方面。
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