American Journal of Medical Genetics · 1981 · 21 citations · 35 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosome AberrationsChromosome BandingClinical CytogeneticsNumerical Chromosome AbnormalitiesStructural Chromosome AbnormalitiesChromosome Banding AnalysisChromosome Banding PatternsChromosome Banding TechniquesChromosome Karyotype AnalysisCytogenetic AberrationsCytogenetic AbnormalitiesRing ChromosomesSex Chromosome Abnormalities
Abstract An infant with psychomotor retardation, hypertonia, microphthalmia, buphthalmos, cleft palate, nail dysplasia, and hypospadias had the karyotype 46,XY, r(21)/45,XY,‐21. Cytogenetic analysis of prophase and prometaphase chromosomes showed the breakpoints of chromosome 21 were at p12 and q22.2.
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A simple technique for demonstrating centromeric heterochromatin
A. T. Sumner · Experimental Cell Research · 1972 · 4.2K citations
New Technique for Distinguishing between Human Chromosomes
A. T. Sumner, H.J. Evans, R.A. Buckland · Nature New Biology · 1971 · 1.2K citations
Identification of human chromosomes by DNA-binding fluorescent agents
T. Caspersson, L. Zech, C. Johansson et al. · Chromosoma · 1970 · 980 citations
A Hagemeijer, E.M.E. Smit · Human Genetics · 1977 · 97 citations