Homozygosity in piebald trait.
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.
Hultén
M A
MA
Regional Cytogenetics Laboratory, East Birmingham Hospital.
Honeyman
M M
MM
Mayne
A J
AJ
Tarlow
M J
MJ
D000417:Albinism / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000151:congenital / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*