IVD CTNND2

Cri-Du-Chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p. It is characterized by a distinctive, high-pitched, catlike cry in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation throughout life. Loss of a small region in band 5p15.2 (Cri-Du-Chat critical region) correlates with all the clinical features of the syndrome with the exception of the catlike cry, which maps to band 5p15.3 (catlike cry critical region). The Cri-Du-Chat region probe is optimized to detect copy numbers at the CTNND2 gene region in the Cri-Du-Chat critical region at 5p15.2. The 5q31 specific FISH probe is included as control probe.

References:
Overhauser et al, 1994, Hum. Mol. Genet., 3; 247-252.
Gersh et al, 1997, Cytogenet Cell Genet., 77; 246-251.