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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 ). [2] It was first described by Jérôme Lejeune in 1963. [3]
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region.
Cri-du chat syndrome; Schmid–Fraccaro syndrome; Turner's syndrome; Ring-D chromosome; Monosomy-G syndrome; Trisomy 13 (Patau's syndrome, D-syndrome) Trisomy 18 (Edwards' syndrome, E-syndrome) Trisomy 21 (Down syndrome) Deletion of long arm of chromosome 18; Deletion of chromosome 18
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5.
Cri du chat syndrome, where the characteristic cry of affected infants, which is similar to that of a meowing kitten, is due to problems with the larynx and nervous system. Familial dysautonomia, where there can be a lack of overflow tears (alacrima), during emotional crying. [50] Pseudobulbar affect, uncontrollable episodes of laughing and/or ...
Craniosynostosis–anal anomalies–porokeratosis syndrome; Cranio-lenticulo-sutural dysplasia; CREST syndrome; Cri du chat; Crigler–Najjar syndrome; Crome syndrome; Cronkhite–Canada syndrome; Cross syndrome; Crouzon syndrome; Crouzonodermoskeletal syndrome; Crush syndrome; Cruveilhier-Baumgarten syndrome; Cryopyrin-associated periodic syndrome
Manhattan-based dermatologist Dr. Brendan Camp, M.D., said that toasted skin syndrome, officially known as erythema ab igne (EAI), is a "pattern of discoloration that occurs in areas of skin after ...
Cri du chat syndrome: 5 D Cystic fibrosis: 7q P DiGeorge syndrome: 22q D Down syndrome: 21 C Duchenne muscular dystrophy: Xp D Familial hypercholesterolemia: 19 P Haemochromatosis type 1: 6 P Hemophilia: X P Klinefelter syndrome: X C Neurofibromatosis: 17q/22q/? Phenylketonuria: 12q P Polycystic kidney disease: 16 or 4 P Prader–Willi syndrome ...