title: Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D006157:Guanosine Monophosphate / Q000235:genetics; D051528:Guanylate Kinases; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009703:Nucleoside-Phosphate Kinase / Q000235:genetics*; D010770:Phosphotransferases / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy
chemical_list: D006157:Guanosine Monophosphate; D010770:Phosphotransferases; D009703:Nucleoside-Phosphate Kinase; D051528:Guanylate Kinases