A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features |
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| Authors: | Kirchhoff Maria Bisgaard Anne-Marie Duno Morten Hansen Flemming Juul Schwartz Marianne |
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| Affiliation: | 1. School of Clinical & Experimental Medicine, College of Medical & Dental Sciences, University of Birmingham, Birmingham, United Kingdom;2. Genetic, Istituti Ospitalieri of Cremona, Cremona, Italy;3. Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Rome, Italy;4. Neonatal Intensive Care Unit, Pediatric Department, Istituti Ospitalieri of Cremona, Cremona, Italy;1. Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, New Zealand;2. Pediatric Genetics Unit, Hacettepe University, Ihsan Doğramaci Children''s Hospital, Ankara, Turkey;3. Department of Medicine, IN University School of Medicine, IN, USA;4. Department of Pediatrics, Riley Hospital for Children, IN University School of Medicine, IN, USA |
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| 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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| Keywords: | 17q21.31 microduplication MAPT CRHR1 Syndrome 244k Agilent oligoarray |
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