Tags

Type your tag names separated by a space and hit enter

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
. 2007 Oct 01; 143A(19):2236-41.

Abstract

Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28.

Authors+Show Affiliations

Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria, Australia. david.amor@mcri.edu.auNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17726694

Citation

Amor, David J., et al. "Keipert Syndrome (Nasodigitoacoustic Syndrome) Is X-linked and Maps to Xq22.2-Xq28." American Journal of Medical Genetics. Part A, vol. 143A, no. 19, 2007, pp. 2236-41.
Amor DJ, Dahl HH, Bahlo M, et al. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. Am J Med Genet A. 2007;143A(19):2236-41.
Amor, D. J., Dahl, H. H., Bahlo, M., & Bankier, A. (2007). Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. American Journal of Medical Genetics. Part A, 143A(19), 2236-41.
Amor DJ, et al. Keipert Syndrome (Nasodigitoacoustic Syndrome) Is X-linked and Maps to Xq22.2-Xq28. Am J Med Genet A. 2007 Oct 1;143A(19):2236-41. PubMed PMID: 17726694.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. AU - Amor,David J, AU - Dahl,Hans-Henrik M, AU - Bahlo,Melanie, AU - Bankier,Agnes, PY - 2007/8/30/pubmed PY - 2008/1/16/medline PY - 2007/8/30/entrez SP - 2236 EP - 41 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 143A IS - 19 N2 - Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/17726694/Keipert_syndrome__Nasodigitoacoustic_syndrome__is_X_linked_and_maps_to_Xq22_2_Xq28_ L2 - https://doi.org/10.1002/ajmg.a.31917 DB - PRIME DP - Unbound Medicine ER -