Search results
Results from the WOW.Com Content Network
Prader–Willi syndrome. 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 ...
Microdeletion syndrome. A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb). [1][2] Detection is done by fluorescence in situ hybridization (FISH).
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.
Chromosomal Mutation. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1]). [2] It was first described by Jérôme Lejeune in 1963. [3]
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed or not, depending on whether they are inherited from the female or male parent. [1][2][3][4][5] Genes can also be partially imprinted. Partial imprinting occurs when alleles from both parents are differently expressed rather than complete expression and complete ...
Palilalia (from the Greek πάλιν (pálin) meaning "again" and λαλιά (laliá) meaning "speech" or "to talk"), [1] a complex tic, is a language disorder characterized by the involuntary repetition of syllables, words, or phrases. It has features resembling other complex tics such as echolalia or coprolalia, but, unlike other aphasias ...
Urban–Rogers–Meyer syndrome, also known as Prader – Willi habitus, osteopenia, and camptodactyly or Urban syndrome, [1] is an extremely rare inherited congenital disorder first described by Urban et al. (1979). [2] [3] It is characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis, [3 ...
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]