Alternative titles; symbols
SNOMEDCT: 232443006;
Cytogenetic location: 6p21.3-p21.2 Genomic coordinates (GRCh38): 6:30,500,001-40,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 6p21.3-p21.2 | ?Laryngeal adductor paralysis | 150270 | Autosomal dominant | 2 |
Mace et al. (1978) described a family with congenital bilateral adductor paralysis in 10 persons in 5 generations. Hoarseness from birth with some progression was the only symptom.
Also see abductor laryngeal paralysis (150260 and 308850).
Male-to-male transmission of congenital bilateral laryngeal adductor paralysis in the family described by Mace et al. (1978) indicated autosomal dominant inheritance.
By linkage analysis in a family with autosomal dominant inheritance of laryngeal adductor paralysis, Mace et al. (1978) found suggestive linkage to HLA (142800) and glyoxalase I (138750) on chromosome 6. The maximum lod score was 1.352 with HLA was 1.352 at theta 0.05, and 1.288 with GLO at theta 0.5.
Mace, M., Williamson, E., Morgan, D. Autosomal dominantly inherited adductor laryngeal paralysis--a new syndrome with a suggestion of linkage to HLA. Clin. Genet. 14: 265-270, 1978. [PubMed: 709905] [Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb02145.x]