Cri-Du-Du Chat Stereotype Analysis

Cri-du-chat syndrome, meaning cry of the cat, reference number 123450 was first recorded by Jerome Lejeune in 1963. This syndrome is characterized in young children by having a meow like cry caused by malformation of the larynx, which is often what is used to diagnosis. Other symptoms include; having a round face, small head, slow motor skills, wide set eyes, low birth weights, receded or small lower jaw, epicathal folds (skin folding into the inner part of they eye), low-set ears, hypotonia (floppiness due to poor muscle tone), sever psychomotor and mental retardation. Other complications that arise later include heart defects, hip dislocation, and scoliosis, bowel abnormalities, swallowing and sucking problems, or deformities in the feet (Cri Du Chat).

Diagnosis is completed by performing a karyotype analysis by viewing the fifth chromosome length. Fluorescence in situ hybridization, FISH, analysis is performed to determine where the breaking point in the chromosome occurred. The characteristics listed above are a result of where the chromosome breakpoints are found in an affected person. Overhauser analyzed 49 individuals’ with 5p deletion breakpoints to find correlation between the breakpoint and clinical features. He found that the high pitched cat cry comes from 5p15.3. For those with only 5p15.3 deletion have

The majority of cri-du-chat syndrome is caused by a new mutation of the chromosome resulting in the deletion of part of the arm on chromosome 5. The amount deleted varies among people with this syndrome. A small deletion of the short arm only involves band 5p15.2 to the entire chromosome arm. However, roughly 12% of people with the syndrome are affected due to, unbalanced segregation due to relocation of a chromosomal segment or recombination from inversion of a single segment on a chromosome in one of the