Ever since methylcytosine was found in genomic DNA, this epigenetic alteration has
become a center of scientific attraction, especially because of its relation to gene silencing in …

Abstract Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders
(NDDs) characterized by difficulties in social interaction and communication, repetitive …

Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are neurodevelopmental
disorders of genomic imprinting. AS results from loss of function of the ubiquitin protein …

Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of
Rett syndrome (RTT), an X-linked neurodevelopmental disorder. Both RTT and autism are …

Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high‐
density whole genome analysis of copy number and genotype. In the past 21 months we …

Background Duplications of the chromosome 15q11-q13. 1 region are associated with an
estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of the …

Purpose: The prevalence of low birth weight (LBW) is increased in subjects born after
assisted reproduction technology (ART), and defective imprinting has frequently been …

Summary The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are caused
by the loss of function of imprinted genes in proximal 15q. In∼ 2%–4% of patients, this loss …

Abstract Background: Approximately 99% of Prader–Willi syndrome (PWS) and 80% of
Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11 …

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiencies of
gene expression from paternal or maternal chromosome 15q11-q13, respectively. Many …