Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

American Journal of Medical Genetics. Part a
Juliette PiardBruno Leheup

Abstract

The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variability appears to be influenced by the parental origin of the duplication. We present here the clinical evaluation and psychological assessment of the largest reported family with 12 carriers on three generations. Patients exhibit mental retardation, motor and visuo-motor skills impairments and adaptive functioning deficit without formal diagnosis of autism. There appeared to be evidence in the family of reduced penetrance in duplication of paternal origin. This familial 15q11q13 duplication was precisely investigated by cytogenetic and molecular techniques including fluorescence in situ hybridization (FISH), PCR analysis of microsatellite markers, array-comparative genomic hybridization analysis (Array-CGH) and semi-quantitative methylation-sensitive PCR. Results showed an inherited 15q11q13 duplication of maternal origin in 10 patients and of paternal origin in the remaining two. The size of the duplicated area was around 6 Mb with breakpoints in accordance with those previously repo...Continue Reading

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Citations

Jul 27, 2011·Journal of Neurodevelopmental Disorders·Toru Takumi
Dec 20, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Raili Sylvia RiikonenHannaleena Kokkonen
Jul 31, 2013·Clinical Genetics·J Y Hehir-KwaN de Leeuw
May 10, 2016·Journal of Neurodevelopmental Disorders·Charlotte DiStefanoShafali Spurling Jeste
Feb 9, 2017·Molecular Cytogenetics·Sara PeixotoIsabel M Carreira
Feb 2, 2019·PloS One·Marlene Lorgen-RitchiePaul Haggarty
Jul 3, 2018·Porto Biomedical Journal·Marta FreitasSofia Dória
Aug 31, 2021·Endocrine Reviews·Alicia F JuriaansAnita C S Hokken-Koelega

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