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  • Title: Chromosome studies in patients with congenital malformations and mental retardation.
    Author: Erdtmann B, Salzano FM, Mattevi MS.
    Journal: Humangenetik; 1975; 26(4):297-306. PubMed ID: 1150230.
    Abstract:
    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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