Cri du Chat Syndrome

Cri du Chat Syndrome - Cri du Chat Syndrome Cri Aka...

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Unformatted text preview: Cri du Chat Syndrome Cri Aka Chromosome 5p Deletion Aka Syndrome and Cat Cry Syndrome Syndrome Cause Cause This genetic disorder is caused when the This short arm of chromosome 5 is partially deleted. Deletion is a chromosomal aberration that occurs when a fragment lacking a centromere is lost during cell division. It is named this because an infant in this It condition has a high pitched cry like a cat condition Causes cont’d Causes One of the missing One pieces of genetic information is telomerase reverse transcriptase (TERT). This subunit of the This enzyme telomerase is involved in the control of cell growth. cell TERT is important during TERT cell division because it keeps the telomeres in tact. tact. Question?! Question?! So, if TERT, involved in the control of cell So, growth, is missing, then what happens?! growth, -cancer? -intellectual disabilities? -intellectual -severe/mild mental retardation? Clinical Symptoms Babies are usually Babies small at birth, with a small head and an unusually round face unusually Usually have Usually respiratory problems and the larynx grows improperly, hence the abnormal cat-like cry of the infant. cry Symptoms cont’d Children may have heart attacks, Children muscular, skeletal, hearing and sight problems. As the subject grows older, he/she may As experience difficulty walking and talking directly. directly. Severe mental retardation is also Severe common. Possible Treatments There is no real There treatment for this syndrome but children with the disorder can go through therapy to improve their language and motor skills, and to help them develop as normally as possible. normally Interesting Facts Cri-du-chat is one of the most common Cri-du-chat syndromes caused by a chromosomal deletion, but it is still a rare disease. It affects between 1 in 20,000 and 1 in 50,000 babies. 50,000 In 80 percent of the cases, the In chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. Thank you Mr. B for being so amazing amazing ...
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