Name of the Disease (Synonyms):
16p13.11 microdeletion syndrome/ Del(16)(p13.11)/ 16p13.11 monosomy syndrome.
OMIM# of the Disease:
Not applicable.
Name of the Analysed Genes or DNA/Chromosome Segments:
16p13.11-p12.3: chr16:14.66-18.70 Mb, RefSeq NC_000016.9 (hg19 human reference sequence, February 2009, build 37).
OMIM# of the Gene(s):
Putative candidate genes: NDE1, 609449; NTAN1, not applicable.
Other genes in the critical deleted region (chr16: 15.48-16.32 Mb, GRCh37/hg19): MPV17L, not applicable; C16orf45, not applicable; KIAA0430, 614593; MYH11, 160745; FOPNL, not applicable; ABCC1, 158343; ABCC6, 603234.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 16p13.11 locus in diagnostic and prenatal settings and for risk assessment in relatives.
- Maria Tropeano
- Joris Andrieux
- David A Collier
