Mosaic tetrasomy 21 in severe mental handicap

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

Albert Schinzel, Werner Schmid, M. Fraccaro et al. · Human Genetics · 1981 · 206 citations · Full text

Developmental Anomaly, Ocular Disease, Mendelian Disorder +11

Chromosome constitution of 500 infants dying during the perinatal period

Geoffrey A. Machin, John A. Crolla · Human Genetics · 1974 · 87 citations

Neonatology, Fertility, Developmental Biology +13

A new case of the trisomy 9p syndrome: Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p)) and a peculiar congenital heart defect

E. Orye, Henri Verhaaren, Hendrik van Egmond et al. · Clinical Genetics · 1975 · 44 citations

Cytogenetics of Down’s Syndrome (Mongolism) III. Frequency of Interchange Trisomics and Mutation Rate of Chromosome Interchanges

P. E. Polani, J.L. Hamerton, F. Giannelli et al. · Cytogenetic and Genome Research · 1965 · 41 citations

Cytogenetics, Genetics, General Population +19

A presumptive tetrasomy for the short arm of chromosome 9

F. J. Rutten, J. M. J. C. Scheres, T. W. J. Hustinx et al. · Human Genetics · 1974 · 40 citations

Chromatin, Cytogenetics, Genetic Disorder +8