Partial trisomy 1(q42→qter):: a new case with a mild phenotype

被引：15
|
作者：
Concolino, D
Cinti, R
Ferraro, L
Moricca, MT
Strisciuglio, P
机构：
[1] Univ Reggio Calabria, Osped A Pugliese, Fac Med, Dept Paediat, I-88100 Catanzaro, Italy
[2] Inst G Gaslini, Lab Cytogenet, Genoa, Italy
来源：
JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 01期
关键词：
trisomy 1q42 -> qter; translocation (1; 8)(q42.1; p23.3);
D O I：
10.1136/jmg.35.1.75
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a female patient with a 46,XX,der(8)t(1;8) (q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.
引用
收藏
页码：75 / 77
页数：3
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