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.
Gc-system typing by isoelectric focusing polyacrylamide gel electrophoresis and quantitative assays were carried out on a patient with a karyotype of 46,XY,del(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.
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Y
Y
Yamamoto
H
H
Nishimoto
S
S
Ikemoto
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003878:Dermatoglyphics; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012880:Skin Pigmentation / Q000235:genetics; D014809:Vitamin D-Binding Protein / Q000097:blood / Q000235:genetics* / Q000276:immunology
D005819:Genetic Markers; D014809:Vitamin D-Binding Protein