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

页码：75 / 77

页数：3

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