Disorders Involving Chromosomal Deletions

DISORDERS INVOLVING CHROMOSOMAL DELETIONS

Cri du chat syndrome is due to deletion of the short arm of chromosome 5. Clini-cal findings include a characteristic high-pitched catlike cry; intellectual disability; congenital heart disease; and microcephaly. Microdeletions include 13q14 (retino-blastoma gene) and 11p13 (WAGR complex [Wilms tumor, 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.