Summary
16 (41%) out of 39 individuals referred by physicians because of sexual anomalies showed abnormal karyotypes; the corresponding figure for those investigated due to suspected autosomal aberrations was 37 out of 104 (36%). A special survey was also conducted among 51 mentally defective children with at least 3 malformations; 5 individuals (10%) were observed with chromosome abnormalities plus 3 (6%) with rare variants. These results were compared with those presented in 26 other surveys reported in the literature.
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Erdtmann, B., Salzano, F.M. & Mattevi, M.S. Chromosome studies in patients with congenital malformations and mental retardation. Hum Genet 26, 297–306 (1975). https://doi.org/10.1007/BF00285381
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DOI: https://doi.org/10.1007/BF00285381