PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are distinct neurogenetic disorders, both usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy. The chromosomal alterations result in an aberrant expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11, due to chromosomal deletion or uniparental disomy,...

Background and Objective: Consanguinity increases the incidence of genetic disorders. The frequency of consanguinity varies in different societies. There was no data regarding the frequency of consanguinity in Zanjan province. This study aimed to describe the prevalence of consanguineous unions in the parents of children with genetic disorders and its related factors in Zanjan, Iran. Materials...

OBJECTIVE The aims of this study were to evaluate the clinical utility of a fluorescence in situ hybridization (FISH) assay as a non-invasive molecular test to distinguish urothelial carcinoma (UC) in the upper urinary tract (UUT) from benign lesions presenting with hematuria. STUDY DESIGN The chromosomal abnormalities of chromosomes 3, 7, 17 and 9 (p16) in hematuria specimens from 34 patient...

BACKGROUND & OBJECTIVES The aetiology of mental retardation is varied and difficult to establish. Reports from India on the spectrum of underlying causative conditions are lacking. This retrospective study was conducted to establish the various aetiologies of mental retardation (MR) and developmental delay (DD) in patients attending a medical genetics centre in north India and to assess the con...