Disorders Involving Chromosomal Deletions

2021-02-24 12:00 AM

Cri du chat syndrome is due to a deletion of the short arm of chromosome 5.

DISORDERS INVOLVING CHROMOSOMAL DELETIONS

Cri du chat syndrome is due to a deletion of the short arm of chromosome 5. Clinical findings include a characteristic high-pitched catlike cry; intellectual disability; congenital heart disease; and microcephaly. Microdeletions include 13q14 (retinol-blastoma gene) and 11p13 (WAGR complex [Wilms tumour, aniridia, genitourinary anomalies, and intellectual disability [previously known as mental retardation]). Microdeletions are too small to be detected by karyotyping and require molecular techniques for detection.