Article
Chromosomal localisation of a pseudoautosomal growth gene(s).
Journal of medical genetics - 1 Sept 1992
Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P
Abstract excerpt
Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deleti...
Topics
- Abnormalities, Multiple
- Adult
- Arylsulfatases
- Base Sequence
- Child
- Chondrodysplasia Punctata
- Chromosome Deletion
- Dwarfism
- Female
- Genetic Markers
- Growth Substances
- Humans
- Male
- Molecular Sequence Data
- Monosomy
- Phenotype
- Sex Chromosome Aberrations
- Steryl-Sulfatase