Article
5p deletions: Current knowledge and future directions.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2015
Nguyen Joanne M, Qualmann Krista J, Okashah Rebecca, Reilly AmySue, Alexeyev Mikhail F, Campbell Dennis J
Abstract excerpt
Disorders resulting from 5p deletions (5p-) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098-3102]. 5p- is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. This report reviews 5p- disorders and their...
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