Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc- system: Probable reduced gene dosage effect and partial piebald trait
✍ Scribed by Yamamoto, Yoshifumi ;Nishimoto, Hiroshi ;Ikemoto, Shigenori
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 352 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Gc-system typing by isoelectric focusing polyacrylamide gel electrophoresis and quantitative assays were carried out on a patient with a karyotype of 46,XY,de1(4)(q12q21.1) and on his parents with normal chromosomes. Although a father-child incompatibility within the Gc-system suggested that its locus is on segment 4q12-13, the serum concentration of vitamin D binding protein in the patient and his father were only about half of that of his mother and control individuals. The possibility of interference of a silent allele in the child could not be excluded. Associated congenital partial leukodermia appeared to be an expression of a partial piebald trait.