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Prader–Willi syndrome ( PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2]
Angelman syndrome ( AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [6]
1 in 20,000 to 1 in 7,500 [4] Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with ...
Frequency. 1 in 5,000 to 1 in 10,000. 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location ...
22q13 deletion syndrome, known as Phelan–McDermid syndrome ( PMS ), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype) typical of a terminal deletion may be diagnosed as 22q13 ...
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...
The percentage of obesity that can be attributed to genetics varies widely, depending on the population examined, from 6% to 85%, [6] with the typical estimate at 50%. It is likely that in each person a number of genes contribute to the likelihood of developing obesity in small part, with each gene increasing or decreasing the odds marginally ...