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cri du chat syndrome
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chromosome 5p deletion syndrome, 5p minus syndrome, cat cry syndrome, cri du chat syndrome, group of symptoms that result from missing a piece of chromosome number 5, syndrome's name, the infant's cry, is high-pitched, sounds, a cat, cri du chat syndrome, deletion of information on chromosome 5, likely that multiple genes on chromosome 5, deleted, one deleted gene, tert, telomerase reverse transcriptase, involved in control of cell growth, play a role in how some, the features of cri cu chat develop, rare chromosomal deletion is not known, expected that the majority of cases, due to spontaneous loss of a piece of chromosome 5, development of an egg, sperm, a minority of cases result, one parent carrying a rearrangement of chromosome 5, a translocation, between 1 in 20,000, 1 in 50,000 babies, account, up to 1% of individuals, severe mental retardation, infants, cri du chat syndrome commonly have a distinctive cat-like cry, have an extensive grouping of abnormalities, severe mental retardation the most important, high-pitched cry sounds, a cat, low birth weight, slow growth, small head, microcephaly, wide-set eyes, hypertelorism, downward slant, eyes, palpebral fissures, small jaw, micrognathia, low-set ears, malformed, skin tags just in front, the ear, partial webbing, fusing of fingers, toes, single line, in the palm, the hand, simian crease, mental retardation, incomplete development of motor skills, findings, listed, physical examination, inguinal hernia, diastasis recti, separated abdominal muscles, low muscle tone, epicanthal folds, an extra fold of skin over the inner corner, the eye, incompletely, abnormally folded external ears, a missing portion, the short arm of chromosome 5 seen on chromosome analysis, a more detailed type of genetic test, fish analysis, reveal that a small piece of this chromosome is missing, an abnormal angle, the skull seen on lateral skull x-ray, no specific treatment is available, syndrome, mental retardation must be addressed, counseling, the parents, parents of a child, syndrome should have genetic counseling, a karyotype test, one parent has a rearrangement of chromosome 5,
5p-, pronounced 5p minus, society 1-888-970-0777, fivepminus, but mental retardation, norm, half of children learn sufficient verbal skills to communicate, cat-like cry becomes less apparent, complications depend on the extent of mental retardation, physical abnormalities, complications, inability to care, self, inability to function in society, diagnosis, in the hospital at birth, discuss the findings, on discharge, important to maintain regular contact, care givers, genetic counseling, testing, all families, a history of this syndrome, exact cause of this genetic disorder, prevention is also unknown.
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