Name of the disease (synonyms):
15q13.3 microdeletion syndrome/ Del(15)(q13.3)/ 15q13.3 monosomy syndrome.
OMIM# of the disease:
612001.
Name of the analysed genes or DNA/chromosome segments:
15q13.2q13.3, RefSeq NC_000015.9 (hg19 human reference sequence, February 2009, build 37).
OMIM# of the gene(s):
Putative candidate genes: CHRNA7, 118511; KLF13, 605328; TRPM1, 603576; FAN1, 613534. Other genes in the critical deleted region (BP4-BP5): MTMR10, not applicable; MIR211, 613753; OTUD7A, 612024.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 15q13.3 locus in diagnostic and prenatal settings and for risk assessment in relatives.
- Maria Tropeano
- Joris Andrieux
- David A Collier