Alasdair G. W. Hunter

A cytogenetic survey of 14,069 newborn infants

Between 1970 and 1973, 14,069 consecutive liveborn infants at the Womens Centre, Winnipeg, were subjected to karyotypic analysis. The details of the materials and methods and the preliminary findings of the study have been previously published [1,2]. A total of 15 nonmosaic and 4 mosaic infants with sex chromosome anomalies were detected: 12 males and 7 females. These children have been followed wherever possible by physical and developmental evaluations, and preliminary findings have been reported previously [3]. In order to obtain further baseline data on these children while they were still prepubertal, it was decided to recontact all families and encourage them to present their children for further physical evaluation and psychologic testing. Details of these investigations and their results are given in this paper.A study of the chromosomes of 14,069 consecutive liveborn infants revealed 11 infants with balanced reciprocal and 13 with balanced Robertsonian translocations. A detailed physical assessment revealed

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

Phenotypic correlations in patients with ring chromosome 22

This paper reports two patients with a ring 22 chromosome which has been confirmed by Q‐banding. The literature contains 19 patients with a ring G‐group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.