A new case of Prader-Willi syndrome with chromosomal aberration.
نویسندگان
چکیده
منابع مشابه
A new case of Prader-Willi syndrome with chromosomal aberration.
The Prader-Willi syndrome is frequently associated with cytogenetic abnormality involving chromosome 15.1 This report presents a new case of this syndrome with the karyotype 45,XX,-15,-19, +der(19),t(15 ;19)(ql2;ql3). The child was born at 8 months' gestation to young, unrelated parents. The mother's first pregnancy resulted in spontaneous abortion after 3 months. At birth, the baby (weight 240...
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Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...
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A case of a male infant presenting in the neonatal period is described to highlight the morbidity of Prader-Willi. His features included marked hypotonia, feeding difficulty, hypogonadism and typically dysmorphic facies. Marked improvement in muscle tone was noted by 5 months of age. Emphasis is placed on its neonatal presentation and possible aetiologic mechanisms. The natural history is also ...
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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 Medical Genetics
سال: 1981
ISSN: 1468-6244
DOI: 10.1136/jmg.18.6.481