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Created with Fabric.js 1.4.5 Cri-du-chat Syndrome Cri-du-chat Syndrome Karyotype Cri-du-chat Syndrome occurs, when a part of the shorter chromosome is Chromosome 5 With a Missing Region Normal Set of Chromosome 5 Normal (female) Karyotype vs. fifth in x 50,000 livebirths. The syndrome is named after the cat-like cry the infants with this genetic disorder make. Cri-du-chat means "cat's cry" in French. deleted. 50-60 Newborns in the US each Year. Cri-du-chat Affects... How do you get Cri-du-chat? 10% 90% Cri-du-chat Inheritance Deletion is Sporadic (Random) Hereditary Chromosomal Arrangement From An Unaffected Parent Deletion Deletion is a mutation where there is missing genetic material, that is normally found on a chromosome. The genetic material mainly goesmissing because of an error in the replication of the egg or sperm cells. Cri-du-chat can happenfrom sporadic deletion. This means the mutationhappens randomly andis not hereditary. Symptoms Cri-du-chat affects... 0 10 20 30 40 50 60 70 80 90 Cat-Like-Cry Low-Set Ears Small Jaw Poor Muscle Tone Spaced Eyes Finger Sydactyly Heart Conditions Occurrences of Symptoms For Cri-du-chat Percentage of Occurrence Symptoms Widely Spaced and Downward Slanted Eyes Heart Conditions Weight and Growth Abnormality Poor Muscle Tone (Hypotonia) Unusual Facial Features Small Jaw (Micrognathia) Cat-like Cry Slow or Incomplete Motor Skills Intellectual Disability Low-set or Abnormally Shaped Ears Webbing or Fusing of Fingers or Toes(Finger Syndactyly) Skin Tag In Front of the Ears Mental Delay Small Head Size (Microcephaly) Treatment Options For Patients There is no cure for Cri-du-chat, and no specific treatments, but patients may undergo: Physical Therapy Speech Therapy Behavorial Modification The most important treatment for the patient is a support group, that helps the child reach his or her maximum potential. Sources Type=RESULT_LIST&contentSegment=&searchType=BasicSearchForm&currentPosition=1&contentSet=GALE%7CCX1919600480&&docId=GALE|CX1919600480&docType=GALE e /9 t -1 t es / ml The deletion occurs on the shorter arm of the fifth chromosome, represented by "p",which is why the syndrome can also be called 5p- syndrome. The genetic material deleted is necessary for normal development. Fifth Chromosome Those who are affected have no family history ofthe genetic disorder. Some Cri-du-chat patients can inherit the chromosome abnormalityfrom an unaffected parent.In 80% of these patients, the defected chromosome comes from the father.
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