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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. [ 2 ]
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 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; Crigler–Najjar syndrome; Crome syndrome; Cronkhite–Canada syndrome; Cross syndrome; Crouzon syndrome; Crouzonodermoskeletal syndrome; Crush syndrome; Cruveilhier-Baumgarten syndrome; Cryopyrin-associated periodic syndrome; Cryptorchidism-arachnodactyly-intellectual disability syndrome; Cuboid syndrome; Currarino syndrome ...
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
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 ...
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 ...
Cri du chat (cry of the cat), from a truncated short arm on chromosome 5. The name comes from the babies' distinctive cry, caused by abnormal formation of the larynx. 1p36 Deletion syndrome, from the loss of part of the short arm of chromosome 1.