منابع مشابه
Prader-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...
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...
متن کاملPrader-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...
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ژورنال
عنوان ژورنال: Journal of Armed Forces Medical College, Bangladesh
سال: 1970
ISSN: 1992-5743
DOI: 10.3329/jafmc.v6i2.7276