Journal of Intellectual Disability Research · 1990 · 23 citations · 6 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsPediatric GeneticsAneuploidyChromosomal AbnormalitiesChromosomal DisordersCongenital DisordersGenetic DisordersAneuploid SyndromeChromosomal Abnormalities EpidemiologyChromosome Banding AnalysisSex Chromosome Aneuploidy Disorders
Survival of cases of trisomy 13 (Patau's syndrome) into adulthood is a rare phenomenon. The purpose of this paper is to report one such survivor who has had the typical clinical features of trisomy 13 confirmed by chromosome analysis of both blood and skin, and to speculate on some of the factors that may have contributed to his unusually long survival.
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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
Clinical Atlas of Human Chromosomes
Marietta M. Henry · JAMA · 1978 · 131 citations
Life Sciences, Genetics, Pediatrics +17
Trisomy D1 in a 10-Year-Old Girl
Philip M. Marden · American journal of diseases of children · 1967 · 17 citations
Medicine, Obstetrics, Pediatrics +15