pseudodominant

pseudodominant

 [soo″do-dom´ĭ-nant]
the rarely observed pattern of inheritance of a recessive genetic trait in the offspring of parents one of whom is homozygous and the other heterozygous for the gene. Half the offspring are affected as in the common pattern of dominant inheritance seen when only one parent, who is heterozygous, carries the gene.
References in periodicals archive ?
Turnpenny, "Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations," Clinical Genetics, vol.
Due to the high carrier frequency of disease-causing ABCA4 alleles in the general population (1:20), pseudodominant inheritance in STGD1 has been described [9, 30-32].
We screened the ABCC6 gene in 20 patients with AS from 18 unrelated Japanese families, and we identified four frequent variants, two novel variants, and a pseudodominant inheritance pattern.
Among the 13 families with disease-causing ABCC6 variants, results were consistent with autosomal recessive inheritance in 11 families, while two families showed a pseudodominant inheritance pattern.
Two families (families 3 and 10) of the 18 families exhibited a pseudodominant inheritance pattern, and all four patients (cases 3, 4, 11, and 12) carried the p.V848CfsX83 variant (homozygously or compound heterozygously) that was detected the most frequent (Figure 2).