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Article

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.

American journal of medical genetics. Part A - 1 Aug 2014

Cafferkey Michiala, Ahn Joo Wook, Flinter Frances, Ogilvie Caroline

Abstract excerpt

15q11.2 deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including intellectual disability, speech and language delay, motor delay, autism spectrum disorders, epilepsy, and schizophrenia. Array CGH analysis of 14,605 patients referred for diagnostic cytogenetic testing found that 83 patients (0.57%) carried the...

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PMID: 24715682
DOI: 10.1002/ajmg.a.36554

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Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.PMID 24715682Read ↗

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