HYPOMELANOSIS OF ITO ASSOCIATED WITH CHROMOSOMAL TRANSLOCATION INVOLVING XP11

被引：12

作者：

LUNGAROTTI, MS

MARTELLO, C

CALABRO, A

BALDARI, F

MARIOTTI, G

机构：

[1] Istituto di Pediatria, Universita di Perugia, Policlinico Monteluce

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期

关键词：

INCONTINENTIA PIGMENTI ACHROMIANS; SKIN; CNS INVOLVEMENT;

D O I：

10.1002/ajmg.1320400414

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-year-old girl with hypomelanosis of Ito (HI). She has typical skin lesions and mild CNS involvement characterized by impaired walking and borderline mental retardation. Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11. This is the sixth case of HI in which this breakpoint has been reported, underlining that this event cannot be considered coincidental. Further studies are needed to understand the etiologic and pathogenetic meaning of this finding.

引用

页码：447 / 448

页数：2

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