Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

@article{Doelken2013ProximalAD,
  title={Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.},
  author={Sandra C. Doelken and K. H. Seeger and Patrick Hundsdoerfer and Wencke Weber-Ferro and Eva Klopocki and Luitgard Margarete Graul-Neumann},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 1},
  pages={218-24}
}
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… CONTINUE READING

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