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. 1978 Aug;15(4):292–293. doi: 10.1136/jmg.15.4.292

Linkage analysis in dominant acrocephalosyndactyly.

J R Eastman, V Escobar, D Bixler
PMCID: PMC1013700  PMID: 712761

Abstract

Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in multiple cases in multiple generations.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Elston R. C., Stewart J. A general model for the genetic analysis of pedigree data. Hum Hered. 1971;21(6):523–542. doi: 10.1159/000152448. [DOI] [PubMed] [Google Scholar]
  2. Escobar V., Bixler D. The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet. 1977 Apr;11(4):295–235. doi: 10.1111/j.1399-0004.1977.tb01316.x. [DOI] [PubMed] [Google Scholar]
  3. Jackson C. E., Weiss L., Reynolds W. A., Forman T. F., Peterson J. A. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr. 1976 Jun;88(6):963–968. doi: 10.1016/s0022-3476(76)81050-5. [DOI] [PubMed] [Google Scholar]
  4. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  5. Robinow M., Sorauf T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed] [Google Scholar]

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