SMITH-MAGENIS SYNDROME - A NEW CONTIGUOUS GENE SYNDROME - REPORT OF 3 NEW CASES

被引：39

作者：

MONCLA, A ^{[1
]}

LIVET, MO ^{[1
]}

AUGER, M ^{[1
]}

MATTEI, JF ^{[1
]}

MATTEI, MG ^{[1
]}

GIRAUD, F ^{[1
]}

机构：

[1] HOP ENFANTS LA TIMONE,CTR GENET MED,F-13385 MARSEILLE 5,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 09期

关键词：

INTERSTITIAL DELETION; CHROMOSOME-17; (17)(P11.2P11.2); LOCALIZATION; MUTATION; 17P11.2; DISEASE;

D O I：

10.1136/jmg.28.9.627

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band.

引用

页码：627 / 632

页数：6

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