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FISH for Cri-du-Chat syndrome

 

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

Specimen Requirements

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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