ANNOTATION: "NEW" CHROMOSOMAL ABNORMALITY SYNDROMES

Abstract

Twelve major chromosome aberration syndromes had been established prior to the "ban-ding breakthrough." Eight of them involved autosomes and four of them sex chromosomes. The former included 21 trisomy (Down's syndrome), 18 trisomy, 13 trisomy, 5p- (cat cry), 4p-, 18q-, 18p- and 13q- syndromes. The latter group consisted of Turner's, Klinefelter's super female and YY syndromes (Table 2). The use of new banding techniques has made it possible to identify any changes of a karyotype in great detail. The abnormal karyotypes so far reported in the literature were summarized in Tables 3 and 4. Among them, the following appeared to be acceptable as cytogenetic entities, each with a characteristic pattern of congenital abnormalities: 8 trisomy, 9p trisomy, 9 trisomy, 10 trisomy, 10p trisomy, 10q distal trisomy, 4p trisomy, 4q distal trisomy, 14q proximal trisomy, 21 (partial) monosomy and 22 (partial) monosomy. Their clinical features were briefly reviewed.