New England Journal of Medicine · 1964 · 37 citations · 8 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersChromosomal TranslocationsClinical CytogeneticsGenetic DisordersGenetic SyndromesCleft Palate SyndromesFamilial SyndromesKlinefelter Syndrome CytogeneticsKlinefelter Syndrome GeneticsSex Chromosome Translocations
IN 1960 Lejeune et al.1 described a patient with Klinefelter's syndrome whose karyogram showed an XXY sex complement and, in addition, a D∼D balanced translocation resulting from centric fusion of the long arms of 2 chromosomes of the D (13–15) group. Two years later Walker and Harris2 reported a pedigree including 11 members with a similar translocation as well as 8 normal persons, 5 miscarriages and an infant with chest defects and cleft palate who died two days after birth. Walker and Harris also cited personal communications describing 2 patients: a sixty-one-year-old man with myocardial infarct and a six-year-old boy . . .
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DNA Replication Patterns of Human Chromosomes
Werner Schmid · Cytogenetic and Genome Research · 1963 · 362 citations
David W. Smith, Klaus Pätau, Eeva Therman et al. · The Journal of Pediatrics · 1963 · 136 citations