TERMINAL DELETION OF CHROMOSOME-4P (4P16.3) SHOWS A BREAKPOINT BETWEEN LOCI LINKED TO HUNTINGTON DISEASE

被引：7

作者：

IKONEN, E

SALO, A

SOMER, M

SOMER, H

PAAKKONEN, L

PELTONEN, L

机构：

[1] UNITED LABS LTD, HELSINKI, FINLAND

[2] UNIV HELSINKI, DEPT MED GENET, SF-00100 HELSINKI 10, FINLAND

[3] UNIV HELSINKI, DEPT NEUROL, SF-00100 HELSINKI 10, FINLAND

[4] UNIV KUOPIO, DEPT PEDIAT, KUOPIO, FINLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 04期

关键词：

WOLF-HIRSCHHORN SYNDROME; HUNTINGTON DISEASE; 4P DELETION; GENE MAPPING;

D O I：

10.1002/ajmg.1320430421

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus.

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收藏

页码：753 / 758

页数：6

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