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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 ]
Jérôme Jean Louis Marie Lejeune (French pronunciation: [ʒeʁom ʒɑ̃ lwi maʁi ləʒœn]; 13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition ...
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.
Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome ...
They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome. [13] [14] [15] Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome.
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
Living among a small band of Neanderthals in what is now eastern Spain was a child, perhaps 6 years old, with Down syndrome, as shown in a remarkable fossil preserving traits in the inner ear ...
Examples of conditions with such an association are fetal alcohol syndrome and the genetic chromosomal abnormalities, such as Down syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf–Hirschhorn syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15 ...