Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994 Jun;31(6):453-7.
doi: 10.1136/jmg.31.6.453.

Segregation analysis of Alagille syndrome

S Dhorne-Pollet  1 , J F Deleuze, M Hadchouel, C Bonaïti-Pellié
Affiliations

Segregation analysis of Alagille syndrome

S Dhorne-Pollet et al. J Med Genet. 1994 Jun.

Abstract

Alagille syndrome (AGS) is a well defined genetic disorder characterised by five major features. An autosomal dominant mode of transmission with reduced penetrance has been suggested by the analysis of a limited number of families. However there has been no statistical analysis. We report here the first segregation analysis of AGS, using 33 families collected through 43 probands. Segregation analysis of these families allowed us to conclude that AGS is transmitted as a dominant disorder with 94% penetrance and 15% of cases are sporadic. The expressivity of the phenotype was variable and 26 persons (15 parents and 11 sibs) were identified as presenting minor forms of the disease. These results are valuable for genetic counselling.

PubMed Disclaimer

References

    1. Minerva Pediatr. 1970 May 26;22(21):1084-8 - PubMed
    1. Am J Hum Genet. 1959 Mar;11(1):1-16 - PubMed
    1. Arch Fr Pediatr. 1973 Nov;30(9):959-76 - PubMed
    1. J Pediatr. 1975 Jan;86(1):63-71 - PubMed
    1. Arch Dis Child. 1977 May;52(5):360-7 - PubMed

Publication types