New England Journal of Medicine · 1962 · 76 citations · 10 references
Life SciencesGeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersCongenital AnomaliesGenetic DisordersNumerical Chromosome AbnormalitiesStructural Chromosome AbnormalitiesAutosomal TrisomyInherited Chromosomal DisordersSex Chromosome Abnormalities
THREE different syndromes are reported to be caused by trisomy of the smaller autosomal chromosomes — mongolism, 18-trisomy syndrome and D1-trisomy syndrome. Everyone agrees that mongolism is caused by trisomy, whether full or partial, but it is not yet known which of the two smallest pairs of acrocentric chromosomes is involved. Four cases of D1-trisomy syndrome have been described by the Wisconsin group,1 2 3 as have 6 cases of 18-trisomy syndrome.4 , 5 One case reported by Edwards et al.6 resembles the latter syndrome, but the authors considered it to be caused by trisomy of chromosome 17. Crawfurd7 also presented a . . .
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MULTIPLE CONGENITAL ANOMALY CAUSED BY AN EXTRA AUTOSOME
Klaus Pätau, DavidW. Smith, Eeva Therman et al. · The Lancet · 1960 · 686 citations
James Edwards, D.G. Harnden, Alan Cameron et al. · The Lancet · 1960 · 623 citations
Cardiac malformation in mongolism
Richard D. Rowe, Irene A. Uchida · The American Journal of Medicine · 1961 · 195 citations
Medicine, Anatomy, Cardiology +10
The D triisomy syndrome and XO gonadal dysgenesis in two sisters.
Eeva Therman, Klaus Pätau, David W. Smith et al. · PubMed · 1961 · 99 citations · Full text