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Genetic Disorders

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Angelman syndrome
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.
AS is a classic example of genomic imprinting in that it is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader–Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting.
AS is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965.[1] An older, alternative term for AS, "happy puppet syndrome", is generally considered pejorative and stigmatizing so it is no longer the accepted term. People with AS are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance

Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy and peroneal muscular atrophy is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of theperipheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people.[1][2] CMT was previously classified as a subtype of muscular dystrophy.[1]

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome orLejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of 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.[2] It was first described by Jérôme Lejeune in 1963.[3] The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio.[4]

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