Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

PURPOSE The ETV6 gene has been reported to be fused to a multitude of partner genes in various hematologic malignancies with 12p13 aberrations. Cytogenetic analysis of six cases of childhood acute lymphoblastic leukemia revealed a novel recurrent t(8;12)(q13;p13), suggesting involvement of ETV6. EXPERIMENTAL DESIGN Fluorescence in situ hybridization was used to confirm the involvement of ETV6...

Prader-Willi and Angelman syndromes are complex neurobehavioral contiguous gene syndromes whose expression depends on the unmasking of genomic imprinting for different genetic loci in human chromosome 15q11-q13. The homologous chromosomal region in the mouse genome has been fine-mapped by using interspecific (Mus spretus) crosses and overlapping, radiation-induced deletions to evaluate potentia...

The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...

BACKGROUND Duplication of chromosome 15q11-q13 (dup15q) accounts for approximately 3% of autism cases. Chromosome 15q11-q13 contains imprinted genes necessary for normal mammalian neurodevelopment controlled by a differentially methylated imprinting center (imprinting center of the Prader-Willi locus, PWS-IC). Maternal dup15q occurs as both interstitial duplications and isodicentric chromosome ...

The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a d...