The Frequency of Uniparental Disomy in Prader-Willi Syndrome
نویسندگان
چکیده
منابع مشابه
Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy.
P rader-Willi syndrome (PWS) is a neurogenetic disorder resulting from the absence of a normal paternal contribution to the chromosome 15q11-13 region. The clinical manifestations of PWS are: reduced fetal activity during pregnancy, a transient severe hypotonia and feeding problems in the neonatal period, a variable degree of mental retardation, hyperphagia, obsessive compulsive features such a...
متن کاملMaternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.
OBJECTIVE To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype. STUDY DESIGN We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test followed by microsatellite polymorphism analysis of chromosome 14 was performed to detect upd(14)m...
متن کاملOrigin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.
Maternal uniparental disomy (UPD) accounts for approximately 25% of Prader-Willi patients (PWS) and paternal UPD for about 2-5% of Angelman syndrome (AS) patients. These findings and the parental origin of deletions are evidence of genomic imprinting in the cause of PWS and AS. The natural occurrence of UPD individuals allows the study of meiotic mechanisms resulting in chromosomal nondisjuncti...
متن کاملChromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.
MATERIALS AND METHODS Fifty-nine PWS patients with the diagnosis confirmed by DNA methylation testing had regular and long term follow up at the Centre for Human Genetics in Leuven. For more then 10 years, these patients have been seen at least once a year by a clinical geneticist and a psychiatrist skilled in the assessment of people with learning disabilities. Detailed information on clinical...
متن کاملDeath in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy.
Prader-Willi syndrome (PWS) is a disorder comprising severe neonatal hypotonia, hypogonadism, gross obesity, short stature, small hands and feet, mental handicap, a characteristic facial appearance (almond shaped eyes, thin downturned upper lip, and a narrow bitemporal diameter), nasal, inarticulate speech, and a particular personality profile. 2 Prader-Willi syndrome has a biphasic course. Ini...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 1992
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejm199206113262404