This syndrome was discovered by Jerome Lejeune in 1963.
The unusual cry of affected infants sounded to Lejeune
like a meowing cat. The condition involves severe mental
retardation and unusual facial features such as a small
head, wide-spread eyes, small chin, low-set ears, hypotonia
and severe motor delay. The majority of patients die
in early childhood, and those who survive into adulthood
exhibit an a low IQ.
This disorder is caused by a loss of part of the short
(p) arm from chromosome 5. Cri-du-Chat , sometimes called
the cat cry syndrome, is one of the more common deletion
syndromes in humans.
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code Q93.4
Test Requisition: Cytogenetics Requisition
Turn-around-time: 10-14 days