Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect.
Copyright policy )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.
Male, Phosphotransferases, Chromosomes, Human, 1-3, Guanosine Monophosphate, Infant, Newborn, Chromosome Mapping, Infant, Trisomy, Humans, Abnormalities, Multiple, Psychomotor Disorders, Nucleoside-Phosphate Kinase, Guanylate Kinases
Male, Phosphotransferases, Chromosomes, Human, 1-3, Guanosine Monophosphate, Infant, Newborn, Chromosome Mapping, Infant, Trisomy, Humans, Abnormalities, Multiple, Psychomotor Disorders, Nucleoside-Phosphate Kinase, Guanylate Kinases
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