title: Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
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.
authors.affiliation: Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. sandra.doelken@charite.de
authors.forename: Sandra C
authors.initials: SC
authors.lastname: Doelken
authors.forename: Karl
authors.initials: K
authors.lastname: Seeger
authors.forename: Patrick
authors.initials: P
authors.lastname: Hundsdoerfer
authors.forename: Wencke
authors.initials: W
authors.lastname: Weber-Ferro
authors.forename: Eva
authors.initials: E
authors.lastname: Klopocki
authors.forename: Luitgard
authors.initials: L
authors.lastname: Graul-Neumann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D029503:Anemia, Diamond-Blackfan / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D017353:Gene Deletion; D056726:Genetic Association Studies; D056426:Genetic Loci; D005838:Genotype; D005858:Germany; D006548:Hernia, Diaphragmatic / Q000235:genetics / Q000503:physiopathology; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D046228:Microarray Analysis; D010641:Phenotype