Annals of Human Genetics · 1961 · 71 citations · 26 references
ImmunohematologyCytogeneticsGeneticsPathologyGynecologyMolecular GeneticsMongoloid TwinsGross AnatomyTibia PuncturePaediatric ClinicsHematologyLaboratory MedicineDiagnostic SciencesChromosome 22Health SciencesRadiological SciencesHistopathologyAneuploidyGenetic VariationChromosomal RearrangementChromosome DynamicsChromosome BiologyMedicineChromosome 9
Summary A 7‐month‐old pair of mongoloid twins is described (one of which died) who both had 48 chromosomes with A A + A 21 XXY. The pair must have been an identical twin, who would develop Klinefelter's syndrome. L. E. Nijenhuis (Anthropogenetics Dept. Red Cross Blood Transfusion Laboratory, Amsterdam) informed us on the data of blood groups. We are indebted to E. D. A. M. Schretlen, paediatrician (Paediatric Clinics, R.C. University) for performing tibia puncture. Our thanks are due to W. G. van Aken (med. student), Miss M. A. W. Janssen and A. P. Jansen for valuable assistance in counting, analysing and technical help. Dr J. C. Seelen, M.D. (Gynaecological Clinics, R.C. University) gave valuable help in evaluating the preparations for Barr‐bodies.
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THE SOMATIC CHROMOSOMES IN MONGOLISM
P.A. Jacobs · The Lancet · 1959 · 385 citations
Cytogenetics, Medicine, Genetics +7
A MONGOL GIRL WITH 46 CHROMOSOMES
P. E. Polani, Jack Briggs, C. E. Ford et al. · The Lancet · 1960 · 288 citations
A PROPOSED STANDARD SYSTEM OF NOMENCLATURE OF HUMAN MITOTIC CHROMOSOMES
J Lejeune, ALBERT LEVAN, J.A. Böök et al. · The Lancet · 1960 · 239 citations
The identification of individual chromosomes, especially in man.
Klaus Pätau · PubMed · 1960 · 178 citations