Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

This publication has 12 references indexed in Scilit:

• Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization
  Human Genetics, 1988
• A boy with Down's syndrome having recombinant chromosome 21 but no SOD‐1 excess
  Clinical Genetics, 1987
• Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)
  Human Genetics, 1987
• Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality
  Human Genetics, 1987
• Moderate Down's syndrome in three siblings having partial trisomy 21q22.2?qter and therefore no SOD-1 excess
  Human Genetics, 1982
• Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns
  Human Genetics, 1981
• Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)
  Human Genetics, 1979
• An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
  Human Genetics, 1976
• Trisomie 21 et superoxyde dismutase-1 (IPO-A)
  Experimental Cell Research, 1976
• The Use of Dermal Configurations in the Diagnosis of Mongolism
  Pediatric Clinics of North America, 1958