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Inherited DNA amplification of the proximal 15q region: Cytogenetic and molecular studies

被引：7
作者：
Mignon, C
Parente, F
Stavropoulou, C
Collignon, P
Moncla, A
TurcCarel, C
Mattei, MG
机构：
[1] FAC MED TIMONE,INSERM,U406,F-13385 MARSEILLE,FRANCE
[2] UFR MED,CNRS 1462,NICE,FRANCE
来源：
JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 03期
关键词：
inherited DNA amplification; proximal; 15q; in situ hybridisation; methylation;
D O I：
10.1136/jmg.34.3.217
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In a 15 year old girl, referred for growth retardation, conventional cytogenetic analysis detected an abnormal 15q(+) chromosome with extra material in the proximal region, inherited from her father and grandfather. Using various molecular cytogenetic techniques, including comparative genomic hybridisation, we showed that the extra chromatin resulted from in situ amplification of DNA sequences located between the loci D15Z1 and D15S18. On the basis of the clinical features of our patient and the late replication of the large amplified region, we searched for functional modifications in the adjacent Prader-Willi syndrome region.
引用
收藏
页码：217 / 222
页数：6
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