Journal of Medical Genetics · 1985 · 20 citations · 8 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesGene DuplicationGenetic DisordersGenome DuplicationMendelian DisordersChromosomal DuplicationsChromosome DuplicationsDuplication SyndromesGalactose-1-phosphate Uridyltransferase DeficiencyGalactose-1-phosphate Uridylyltransferase DeficiencyGene Duplication DisordersTandem DuplicationTandem Gene Duplication
A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.
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