Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci |
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| Authors: | Sandra C Doelken Karl Seeger Patrick Hundsdoerfer Wencke Weber‐Ferro Eva Klopocki Luitgard Graul‐Neumann |
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| Institution: | 1. Department of Pediatric Oncology, Haematology and SCT, Charité Universit?tsmedizin Berlin, Berlin, Germany;2. Department of Pediatrics, Klinikum Neuk?lln, Berlin, Germany;3. Institute for Medical and Human Genetics, Charité Universit?tsmedizin Berlin, Berlin, Germany;4. Max–Planck Institute for Molecular Genetics, Berlin, Germany |
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| Abstract: | Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as a susceptibility locus for cognitive deficits, congenital diaphragmatic hernia (CDH), and Diamond–Blackfan anaemia (DBA). We describe two patients with 15q25.2 deletion, one with the more distal deletion and the other with a deletion overlapping both the distal and proximal 15q25.2 deletions and compare them to the 18 so far reported patients with 15q25.2 deletions. We provide a characterization of the 15q25.2 microdeletions and contribute to the genotype–phenotype delineation for these two novel microdeletion syndromes. © 2012 Wiley Periodicals, Inc. |
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| Keywords: | 15q25 2 microdeletion intellectual disability developmental delay |
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