Exclusion of the HLA locus from a large portion of the long arm of chromosome 6.
HLA antigens were determined in two infants with multiple congenital anomalies and in their healthy parents and one sibling. One infant had a deletion of a major portion of the long arm of chromosome 6. The other child had a translocation of a similar piece of chromosome 6 to the short arm of chromosome 3. The mother and the maternal grandmother showed this translocation in a balanced state. The HLA types of both children and their parents exclude the localization of the major histocompatibility locus from the deleted or translocated portion of the long arm of chromosome 6.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D000939:Epitopes; D005260:Female; D006649:Histocompatibility Antigens; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic
D000939:Epitopes; D006649:Histocompatibility Antigens