Cri du chat

It was first described by French geneticist (ocular hypertelorism), and a failure to thrive.

The severity of symptoms appears to be related to the size of the chromosomal deletion, with larger deletions being associated with more severe symptoms and greater developmental delay.

It is important to continue regular visits with the child's health care providers after leaving the hospital.

Genetic counseling and testing is recommended for all persons with a family history of this syndrome.

It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population.

The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed.

Cri-du-chat syndrome is diagnosed in infants and young children on the basis of clinical symptoms and may be confirmed through chromosomal analysis.

A neoplasia was present in four patients (age 10–50 yrs), and a fifth patient developed a cholesteatoma during childhood. follows rigorous standards of quality and accountability. A number sign (#) is used with this entry because cri-du-chat syndrome is a well-described partial aneusomy resulting from deletion of the short arm of chromosome 5.The minority of cri-du-chat cases are inherited; the parent who carries the genetic abnormality typically is unaffected by the disorder, owing to a phenomenon known as balanced translocation (chromosomal rearrangement in which there is no net gain or loss of genetic material). A small number of cases occur when a parent passes a different, rearranged form of the chromosome to their child. Your provider will suggest ways to treat or manage the symptoms. is accredited by URAC, also known as the American Accreditation Health Care Commission (org). A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites.


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