De novo deletion of chromosome 18q in a baby with harlequin ichthyosis

被引：8

作者：

Stewart, H

Smith, PT

Gaunt, L

Moore, L

Tarpey, P

Andrew, S

Dady, I

Rifkin, R

Clayton-Smith, J

机构：

[1] Churchill Hosp, Dept Med Genet, Oxford OX3 7LJ, England

[2] St Marys Hosp, NW Reg Cytogenet Serv, Manchester M13 0JH, Lancs, England

[3] Manchester Royal Infirm, Dept Histopathol, Directorate Lab Med, Manchester M13 9WL, Lancs, England

[4] Hope Hosp, Dept Histopathol, Manchester, Lancs, England

[5] St Marys Hosp, Reg Neonatal Unit, Manchester M13 0JH, Lancs, England

[6] Furness Gen Hosp, Dept Paediat, Barrow, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 102卷 / 04期

关键词：

harlequin ichthyosis; chromosome; 18q;

D O I：

10.1002/ajmg.1506

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder. (C) 2001 Wiley-Liss, Inc.

引用

页码：342 / 345

页数：4

共 18 条

[1] PROBLEMS IN PRENATAL-DIAGNOSIS OF THE ICHTHYOSIS CONGENITA GROUP [J].