EXTRA SMALL METACENTRIC CHROMOSOME IDENTIFIED AS I(18P)

被引:20
作者
ROCCHI, M [1 ]
STORMI, M [1 ]
ARCHIDIACONO, N [1 ]
FILIPPI, G [1 ]
机构
[1] UNIV TRIESTE,IST INFANZIA TRIESTE,CATTEDRA PUERICULTURA,I-34137 TRIESTE,ITALY
关键词
D O I
10.1136/jmg.16.1.69
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:69 / 73
页数:5
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