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Case Reports
. 2007 Jul-Aug;50(4):256-63.
doi: 10.1016/j.ejmg.2007.05.001. Epub 2007 May 18.

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

Maria Kirchhoff  1 , Anne-Marie Bisgaard, Morten Duno, Flemming Juul Hansen, Marianne Schwartz
Affiliations
Case Reports

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

Maria Kirchhoff et al. Eur J Med Genet. 2007 Jul-Aug.

Abstract

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.

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