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BIBTEX RIS

Clinical utility gene card for: 16p13.11 microdeletion syndrome

2013; Springer Nature; Volume: 22; Issue: 5 Linguagem: Inglês

10.1038/ejhg.2013.230

ISSN

1476-5438

Autores

Maria Tropeano, Joris Andrieux, David Collier,

Tópico(s)

Genomics and Rare Diseases

Resumo

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.

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