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• W2034002330 abstract "Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterisation of a maternally inherited BP1-BP2 deletion in two siblings with intellectual, motor and speech delay, autistic syndrome disorder and several dysmorphic features. One of the patients was also a carrier of an FMR1 allele in the low premutation range. The four genes within the deletion were under-expressed in all deletion carriers but FMR1 mRNA levels remained normal. Our results suggest that BP1-BP2 deletion could be considered as a risk factor for neuropsychological phenotypes and that it presents with variable clinical expressivity." @default.
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• W2034002330 date "2012-10-01" @default.
• W2034002330 modified "2023-10-16" @default.
• W2034002330 title "15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism" @default.
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• W2034002330 doi "https://doi.org/10.1016/j.gene.2012.07.023" @default.
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