A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

被引：51

作者：

Kirchhoff, Maria ^{[1
]}

Bisgaard, Anne-Marie ^{[1
]}

Duno, Morten ^{[1
]}

Hansen, Flemming Juul ^{[1
]}

Schwartz, Marianne ^{[1
]}

机构：

[1] Rigshosp, Dept Clin Genet, DK-2100 Copenhagen O, Denmark

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 04期

关键词：

17q21.31; microduplication; MAPT; CRHR1; syndrome; 244k Agilent oligoarray;

D O I：

10.1016/j.ejmg.2007.05.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Array-CGH analysis using 244k Agilent oligoarray revealed a de novo 17q21.31 microduplication in a 10-year-old girl with severe psychomotor developmental delay, facial dysmorphism, microcephaly, abnormal digits and hirsutism. The duplication encompassed the MAPT and CRHR1 genes and was reciprocal to the recently described 17q21.31 microdeletion, associated with a recognizable clinical phenotype. Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication. (c) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：256 / 263

页数：8

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