Cri du chat syndrome

Cri du chat syndrome is a congenital disorder caused by loss of genetic material from chromosome 5’s short arm. It is associated with characteristic facial features, a high-pitched infant cry, and variable developmental and intellectual disabilities.

Chromosome 5p deletion: Loss of genetic material from the short arm of chromosome 5, called 5p. This deletion is the defining genetic change in the syndrome.
Chromosome: A DNA-and-protein structure that packages genetic material in a cell. The syndrome results from a structural change in one chromosome.
Chromosomal microarray: A genomic test that detects gains and losses of DNA across the chromosomes. It can define the size and boundaries of a 5p deletion.
Cat-like cry: A high-pitched cry in infancy associated with laryngeal and neurological features of Cri du chat syndrome. This distinctive early sign gave the syndrome its name.
Wolf–Hirschhorn syndrome: A congenital disorder caused by deletion of genetic material from the short arm of chromosome 4. It resembles Cri du chat syndrome as a deletion disorder but involves chromosome 4p.
Chromosomal deletion: A structural chromosome change in which a segment of genetic material is missing. Cri du chat syndrome is one disorder caused by a chromosomal deletion.
Short arm of a chromosome: The shorter of the two arms of a chromosome, designated p. The missing material is on chromosome 5’s p arm.
Prenatal diagnosis: The assessment of fetal health or genetic conditions before birth. Testing may identify a chromosome 5 deletion during pregnancy.
Microcephaly: A condition in which head circumference is smaller than expected for age and sex. Microcephaly is among the findings that may accompany the syndrome.
1p36 deletion syndrome: A congenital disorder caused by loss of genetic material from the short arm of chromosome 1. It shares developmental and neurological features while arising from a different chromosome deletion.

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