FREQUENCY OF DUPLICATION AT 17P11.2 IN FAMILIES OF NORTHEAST ITALY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1

被引：17

作者：

MOSTACCIUOLO, ML ^{[1
]}

SCHIAVON, F ^{[1
]}

ANGELINI, C ^{[1
]}

MICCOLI, B ^{[1
]}

PICCOLO, F ^{[1
]}

DANIELI, GA ^{[1
]}

机构：

[1] UNIV PADUA,DEPT NEUROL,I-35121 PADUA,ITALY

来源：

NEUROEPIDEMIOLOGY | 1995年 / 14卷 / 02期

关键词：

CHARCOT-MARIE-TOOTH; DUPLICATION; CHROMOSOME; 17;

D O I：

10.1159/000109778

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

Charcot-Marie-Tooth disease type 1 (CMT 1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in northeastern Italy were analyzed with the probe pVAW409R3 to reveal the presence of 17p11.2 duplication. The duplication frequency that resulted was about 82% and not significantly different in familial and in sporadic cases (p = 0.801). This kind of molecular analysis can be very useful for the differential diagnosis of CMT 1 and for the early diagnosis in the absence of a clear clinical manifestation.

引用

页码：49 / 53

页数：5

共 27 条

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[2]

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