15q11-13 chromosome region contains five breakpoints (BP1-BP5). Chromosomal rearrangements are common in this region. The microdeletion of BP1-BP2 region represents the 15q11.2 microdeletion syndrome associating with variable phenotype. We investigated a ten years old boy with hypotony. His motoric functions, speech and intellectual development were delayed. He suffered from epilepsy and showed...

202 Isabella is a nine-year-old with Prader-Willi syndrome (PWS), secondary to a paternal interstitial deletion (15q-). Her parents seek your advice on the use of human growth hormone (GH) because despite a program of physical activity and rigorous dietary management with the red-yellow-green weight control system, their daughter’s obesity is increasing . Lately, she is more tired, has headache...

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes on chromosome 15. It occurs in males and females, no matter what race. As an infant, PWS shows itself in weak muscle tone (hypotonia, Pic. 1), feeding difficulties, poor growth, and delayed development. In the beginning during childhood, characterizes itself by having the kids develop an insatiable appet...

Fluorescence in situ hybridization (FISH) has facilitated the detection of microdeletions seen in PraderWilli/Angelman (PW/AS), Williams and DiGeorge syndromes. Out of 374 suspected cases tested at Jaslok Hospital in the past 5 years, 73 were positive, including 29 cases of Angelman, 16 of Prader-Willi, 24 of Williams and 4 of DiGeorge syndrome. Male preponderance was seen, mainly in Williams s...

BACKGROUND Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis. METHODS To improve understanding of Prader-Willi syndrome in neonates in Asia, we retrospectively analyzed the clinical records of 20 affected newborns diagnosed in the Department of Neonatology, Guangzhou Women and Children's Medical C...

Prader-Labhart-Willi or Prader-Willi syndrome (PWS) was first reported in 1956, and additional syndrome details have been elucidated since then. This syndrome is primarily characterized by severe neonatal hypotonia, dysmorphic changes, retarded physical and cognitive development, early hyperphagia, obesity, sleep disorders, psychiatric and behavioral disorders, growth deficit and hypogonadism. ...

Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...

Chromosome 15 is a focus of increasing interest to both psyc hiatry and neurology. Several neurodevelopmental disorders are geneticall y associated with this autosome, including Prader-Willi syndrome, Angelma n syndrome, Dyslexia, Autism, Hyperlexia, Ring 15 Chromosome syndrome, and Trisomy 15 syndrome. This report provides a review of the molecular biology of chromosome 15 and these associated...

Abstract Background Sleep disorders are common in people with intellectual disability (ID) and autism, growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence profile specific syndromes will quantify syndrome-driven ‘risk’, inform prognosis enhance understanding aetiology disorders. Method Following PRISMA guidelines for meta-analysis, we se...