Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders
C Depienne, D Moreno-De-Luca, D Heron…�- Biological�…, 2009 - Elsevier
BACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most
frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-
Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of
imprinted genes, are also associated with ASD. However, the prevalence of these disorders
in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13
rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522�…
frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-
Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of
imprinted genes, are also associated with ASD. However, the prevalence of these disorders
in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13
rearrangements in a large sample of patients ascertained for ASD. METHODS: A total of 522�…
[PDF][PDF] Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
SCB Siffroi, B Benyahia - academia.edu
Background Maternally-derived duplications of the 15q11-q13 region are the most
frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-
Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of
imprinted genes, are also associated with ASD. However, the prevalence of these disorders
in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13
rearrangements in a large sample of patients ascertained for ASD.
frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-
Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of
imprinted genes, are also associated with ASD. However, the prevalence of these disorders
in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13
rearrangements in a large sample of patients ascertained for ASD.
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