Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, 
BPES features, developmental delay, and congenital heart defects

Cingoz, S.; Bache, I.; Bjerglund, L.; Ropers, H. H.; Tommerup, N.; Jensen, H.; Brondum-Nielsen, K.; Tumer, Z.

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

MPS-Authors

/persons/resource/persons50501

Ropers, H. H.
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Cingoz, S., Bache, I., Bjerglund, L., Ropers, H. H., Tommerup, N., Jensen, H., et al. (2011). Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A, 155A(1), 203-6. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21204233 http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.33766/asset/33766_ftp.pdf?v=1&t=gywo8iu9&s=11eb1c875f786487e81c141cc7fb4a6d7082c4b8.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-796D-5

Abstract

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.