Jerome Lejeune's Cri Du Chat Syndrome

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Cri Du chat

Jerome Lejeune, a geneticist, distinguished Cri Du Chat syndrome in 1963: he also discovered down syndrome. The syndrome, in French, means ‘Cry of the Cat’. This syndrome is caused when the short arm of the 5th chromosome is deleted. Due to this deletion, multiple genes are missing. Therefore, this causes numerous disorders. (Who discovered Cri Du Chat, Explorable.com) Cri du chat is when the 5th chromosome out of the 24 chromosomes is missing. No one knows the cause of this deletion. It happens spontaneously, with no family history. This portion missing is exceptionally imperative for cell growth. Therefore, this will create whether it may be harmed or absent This develops throughout the advancement of the sperm or egg, …show more content…

Other affects are intellectual disability and deferred development in the brain. Miniature head measure, low weight, feeble muscle tone are some other affects. Facial features that may occur are wide-set eyes, low-set ears, a small jaw. A small percentage of children may develop a heart deformity. (Cri Du Chat Syndrome- GHR- https://ghr.nlm.nih.gov) The treatments do not help cure the disease, but it helps with certain problems. Some treatment options can be physiotherapy to improve poor muscle tone. Other options may be speech therapy to improved delayed speech. Furthermore, communication alternatives, such as dactylology, since verbalization is conventionally delayed, often astringently. And lastly, occupational therapy to edify coping strategies and incipient skills. (Better Health Channel- Treatments for Cri Du Chat) Some rare disorders include cleft lip palate, megacolon, dislocated hips, malformations, scoliosis, organ defects, and severe medical conditions. Also, feeding disabilities, walking disabilities, and significant retardation. Although they live in these conditions, the life expectancy for a person with Cri Du Chat is normal. Unless, the person has a life-threatening medical condition. (NHGRI- Learning About Cri du Chat

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