Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.
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 15q11.2(BP1-BP2) deletion. Phenotypic frequencies in the deleted cohort (n = 83) were compared with frequencies in the non-deleted cohort (n = 14,522); developmental delay, motor delay, and speech and language delay were all more prevalent in the deleted cohort. Notably, motor delay was significantly more common (OR = 6.37). These data indicate that developmental delay, motor delay, and speech and language delay are common clinical features associated with this deletion, providing substantial evidence to support this CNV as a susceptibility locus for a spectrum of neurodevelopmental disorders. © 2014 Wiley Periodicals, Inc.
Department of Medical and Molecular Genetics, King's College, London, UK.
Michiala
M
Cafferkey
Joo Wook
JW
Ahn
Frances
F
Flinter
Caroline
C
Ogilvie
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D066264:Datasets as Topic; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D013577:Syndrome; D055815:Young Adult
15q11.2(BP1-BP2) deletion; CNV; NIPA1; array CGH