Trisomy of a Large Chromosome

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Abstract
Reference is made to an unusual case among a group of patients with various abnormalities of structure. The patient, a female aged 21 years, weighed 220 lb. and was 67.75 in. in height. She had definite webbing of the neck, with a flat occiput. Psychometric tests revealed an I. Q. of about 40. The referring diagnosis of mongolism was rejected by experienced observers, despite the patient's obvious mongoloid facies and mental retardation. In the laboratory studies 47 chromosomes were noted in the bone-marrow cells. The nuclei of the buccal mucosa contained two sex-chromatin bodies. Trisomy apparently is associated with various congenital defects, the exact syndrome depending on the chromosomes involved and the resulting impact on over-all genetic balance.

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