منابع مشابه
PWS and Obesity, and PWS look-alikes
Obesity is a common finding in our general population, the proportion of obese individuals having increased at an alarming rate all over the world in the past 20 years. Compared to growth failure, obesity is rare in a population of individuals with a genetic syndrome. One database for genetic syndromes, Online Mendelian Inheritance in Man, contains 169 matches for obesity and 421 matches for gr...
متن کاملPrader-Willi Syndrome (PWS) — Diagnosis and Treatment
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...
متن کاملInfertility in Pws
A better word is infertile....the word “sterile” has negative connotations. On a purely theoretical level, males with PWS should be able to correct their infertility if they receive gonadotropin replacement or if we knew of a way to restore endogenous gonadotropin secretion. The testicles are generally normal (except in cases of testicular damage due to maldescent and/or surgical damage) Howeve...
متن کاملPrader-Willi Syndrome (PWS) — Diagnosis and Treatment
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...
متن کاملPrader-Willi Syndrome (PWS) — Diagnosis and Treatment
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...
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ژورنال
عنوان ژورنال: Journal of Rare Disorders: Diagnosis & Therapy
سال: 2018
ISSN: 2380-7245
DOI: 10.21767/2380-7245.100188