Mongolism and Turner's syndrome in the same sibship

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Abstract
Summary: A family was discovered during a survey of the sibs of patients with Down's syndrome using the buccal smear technique which contained two normal boys and a chromatin‐negative girl. This child showed the clinical features of Turner's syndrome and chromosome analysis revealed forty‐five chromosomes with an XO sex chromosome constitution. The boy with Down's syndrome was found to have forty‐seven chromosomes with a triplo­21 pattern. The significance of two aneuploid patients in the same family is discussed, particularly in the light of comparable families in the literature. It is concluded that in certain families there is an inherited predisposition to non­disjunction, probably due to an abnormal gene.This family study formed part of a thesis by A. W. Johnston for the degree of Doctor of Medicine in the University of Cambridge.Dr F. H. Allen of Boston carried out the blood grouping, Dr J. W. Shaffer the psychological testing, Prof. L. S. Penrose and Dr Sarah B. Holt the dermatoglyphics. Drs V. A. McKusick and M. A. Ferguson­Smith encouraged and advised, while Mrs Y. Hajda ably assisted on the technical side.