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Ann Genet. 1980;23(2):83-5.

Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect.


A male infant with dup (1) (q32 leads to q43) constitution is reported. He had mental and physical retardation and a constellation of dysmorphisms, which are considered characteristic of trisomics for the distal one-third of the long arm of chromosome 1. The assay for guanylate kinase 1 (GUK 1) activity showed a gene dosage effect and confirmed the regional assignment of this marker in the chromosomal region indicated by data derived from somatic hybrids.

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