منابع مشابه
Prader-Willi Syndrome
Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...
متن کاملPrader-Willi syndrome.
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...
متن کاملThe Prader - Willi syndrome Maternal Ch 15 m EW Normal
Since the original description by Prader, Labhart, and Willi in 1956,' there have been over 700 case reports of the Prader-Willi syndrome and by the end of 1991 the PraderWilli Association were aware of 1595 affected individuals in North America.2 Estimates of prevalence vary: one group has reported a consensus figure of one in 10 000 births,3 but with modem techniques for laboratory diagnosis ...
متن کاملPrader-willi Syndrome
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...
متن کاملPrader-Willi syndrome and psychoses.
Prader-Willi syndrome (PWS) is associated with an insatiable appetite and (often) other maladaptive behaviours (self-injury, sleep disorders, insistence on routines, and temper tantrums). Psychoses are not a recognised feature. Most affected people have a chromosome 15 abnormality (deletion, disomy, structural rearrangement, etc.). Three people with PWS who developed psychotic disorders in earl...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1981
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.56.3.181