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15q25.2 deletion syndrome

Saturday 30 October 2010

Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects. A high index of suspicion should exist for the development of cognitive defects, anaemia and DBA-associated malignancies in these individuals.


- congenital diaphragmatic hernia (CDH)
- cognitive deficits
- cryptorchidism
- short stature
- Diamond-Blackfan anaemia (DBA)

15q25.2 target genes

- CPEB1,
- AP3B2


- Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond—Blackfan anaemia. Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. J Med Genet. 2010 Nov;47(11):777-81. PMID: 20921022