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Medical condition
Cri du chat, or Cri-du-chat
Other names
Chromosome 5p deletion syndrome
5p− syndrome
Lejeune's syndrome
Facial features of a person with Cri du chat syndrome at the age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D)
Specialty
Medical genetics
Causes
Chromosomal Mutation
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 [1]).[2] It was first described by Jérôme Lejeune in 1963.[3] The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.[4]
^"Learning About Cri du Chat". www.genome.gov. Retrieved 2015-12-10.
^"Cri du Chat Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-12-10.
^Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]". C. R. Acad. Sci. (in French). 257: 3098–102. PMID 14095841.
^Chen, Harold (Apr 21, 2015). "Cri-du-chat Syndrome". Medscape. Retrieved 2015-12-09.
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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
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cri-du-chatsyndrome. Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat...
monosomy are lethal and the individual will not survive development. Criduchatsyndrome – (French for "cry of the cat" after the persons' malformed larynx)...
alcohol syndrome, and with the genetic chromosomal abnormalities Down syndrome (chromosome 21), criduchatsyndrome (chromosome 5), Klinefelter syndrome, Wolf–Hirschhorn...
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as limb anomalies, syndromes involving multiple systems, and Down syndrome. Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal...
particular syndrome. Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chatsyndrome, Down syndrome, Patau's...
the facial nerve can cause sufferers to shed tears while eating. Criduchatsyndrome, where the characteristic cry of affected infants, which is similar...
risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
example, Criduchatsyndrome involves a deletion on the short arm of chromosome 5. It is written as 46,XX,5p-. The critical region for this syndrome is deletion...
care home. Frances, who is two years younger than Whiley, has Criduchat genetic syndrome. Whiley publicly campaigned for those in her sister's category...
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