Cri du chat
Ultrasound scans may also be required in some cases. Physicians only suggest ways for symptomatic treatment or management.Parents of sufferers can visit genetic counselors to conduct testing and determine which one of them is having a change in chromosome 5.
As per studies, developmental delay and intellectual disability are more acute in larger deletions than in smaller ones.But it’s one of the more common syndromes caused by chromosomal deletion. Infants with the syndrome produce a high-pitched cry that sounds like a cat.The larynx develops abnormally due to the chromosome deletion, which affects the sound of the child’s cry.This means the child develops the syndrome when fertilization occurs.According to the Orphanet Journal of Rare Diseasesthe chromosome deletion comes from the father’s sperm in about 80 percent of cases. Only about 10 percent of cases come from a parent who has a deleted segment, according to the National Human Genome Research Institute.
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In such cases, the parent is a carrier of a balanced translocation (a chromosomal rearrangement) in which no genetic component is lost or gained.