AUTOSOMAL MONOSOMY in man has been considered invariably lethal, although there are now reports of individuals with partial monosomy, or at least deletions of considerable portions of chromosomes 5 (Cri-du-chat),1 18,2,3 and 21 (antimongolism).4,5 Indeed, there recently has been a description of a child with clinical features of both Cri-du-chat and anti-mongolism, who had apparent deletions of both a B-group and a G-group chromosome.6 We have studied a child whose chromosomal constitution reveals a deficiency of the greater part of a G-group chromosome and most likely represents a partial monosomy of the number 22 chromosome.
Report of a Case
This 3-year-old white boy was referred to the Child Evaluation Center of the Department of Pediatrics, University of Louisville School of Medicine because of grand mal seizures, which began at about the second year of life. He was the only child of a 26-year-old father and 29-year-old
Reisman LE, Darnell A, Murphy JW, Hall B, Kasahara S. A Child With Partial Deletion of a G-Group Autosome. Am J Dis Child. 1967;114(3):336-339. doi:10.1001/archpedi.1967.02090240150018