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Chapter: Pathology: Genetic Disorders

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Disorders Involving Chromosomal Deletions

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

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.

 

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