Abstract
A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate genetic heterogeneity and recessive inheritance.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser. 1971 Mar;07(4):87–101. [PubMed] [Google Scholar]
- Comings D. E., Odland G. F. Partial albinism. JAMA. 1966 Feb 14;195(7):519–523. [PubMed] [Google Scholar]
- Farndon P. A., Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child. 1983 Nov;58(11):932–933. doi: 10.1136/adc.58.11.932. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hageman M. J., Delleman J. W. Heterogeneity in Waardenburg syndrome. Am J Hum Genet. 1977 Sep;29(5):468–485. [PMC free article] [PubMed] [Google Scholar]
- Hirschhorn K. Dominance and homozygosity in man. Am J Med Genet. 1984 Jul;18(3):541–541. doi: 10.1002/ajmg.1320180322. [DOI] [PubMed] [Google Scholar]
- Pauli R. M. Dominance and homozygosity in man. Am J Med Genet. 1983 Dec;16(4):455–458. doi: 10.1002/ajmg.1320160403. [DOI] [PubMed] [Google Scholar]
- Reed W. B., Stone V. M., Boder E., Ziprkowski L. Pigmentary disorders in association with congenital deafness. Arch Dermatol. 1967 Feb;95(2):176–186. [PubMed] [Google Scholar]
- Shah K. N., Dalal S. J., Desai M. P., Sheth P. N., Joshi N. C., Ambani L. M. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr. 1981 Sep;99(3):432–435. doi: 10.1016/s0022-3476(81)80339-3. [DOI] [PubMed] [Google Scholar]
- WAARDENBURG P. J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 1951 Sep;3(3):195–253. [PMC free article] [PubMed] [Google Scholar]