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J Med Genet. 1978 August; 15(4): 292–293.
PMCID: PMC1013700

Linkage analysis in dominant acrocephalosyndactyly.


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

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  • Elston RC, Stewart J. A general model for the genetic analysis of pedigree data. Hum Hered. 1971;21(6):523–542. [PubMed]
  • Escobar V, Bixler D. The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet. 1977 Apr;11(4):295–235. [PubMed]
  • Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr. 1976 Jun;88(6):963–968. [PubMed]
  • 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. [PubMed]
  • Robinow M, Sorauf TJ. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed]

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