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3p25-pter deletion syndrome

Thursday 22 March 2012

Distal deletion of chromosome 3p25-pter (3p- syndrome)

Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia.

Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients.

A candidate critical region for mental retardation was mapped to an approximately 1 Mb interval containing SRGAP3 but other 3p neurodevelopmental genes including CHL1, CNTN4, LRRN1, and ITPR1 mapped outside the candidate critical interval.

SRGAP3 could be a major determinant of mental retardation in distal 3p deletions.

References

- Microarray based analysis of 3p25-p26 deletions (3p- syndrome). Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER. Am J Med Genet A. 2009 Oct;149A(10):2099-105. PMID: #19760623#