Chromosomal Survey in 298 Normal Subjects and 1,253 Cases of Congenital Disorders during 1966-1970

Abstract

SummaryA survey of chromosomal abnormalities has been carried out in Italy since 1966. Among the 1,551 subjects examined, the following abnormalities were found: 2 cases of C/C translocation, 1 of D/C, 5 of D/D, and 9 of D/G; 2 cases of Patau's syndrome with D trisomy; 4 cases of Edwards' syndrome; 176 cases of Down's syndrome, of which 163 with regular trisomy, 4 with mosaicism, 7 with D/G translocation, 1 with G/G translocation, and 1 with C/G translocation; 10 cases with 47,XXY complement; 1 case with 46,XY/47,XXY/48,XXXY mosaicism; 4 cases with 45,XO karyotype; 3 with 45,XO/46,XX, 1 with 45,XO/46,XY, 2 with 45,XO/46,XXr and 1 with 45,XO/46,XXi mosaicism; 2 cases with 47,XYY complement; 2 phenotypic females with 46, XY karyotype; and 5 leukaemic patients with Ph chromosome.Furthermore, several kinds of normal variants were observed, such as no. 9 prominent secondary constriction, chromosome-D or -G enlarged short arm, 16-pair heteromorphism, Y-chromosome polymorphism, and satellited E chromosome.

Familial occurrence of chromosome variant 17ph+

“…The structural change in the short arm of chromosome No. 17 has been interpreted by some authors as being due to satellites on this chromosome (Berg et al 1969, Daly 1970, Battaglia et al 1971), while others have considered it t o be a secondary constriction (Sandstrom & Jenkins 1973.…”

“…A marker chromosome 17p described by Sandstrom & Jenkins (1973 was considered from a similar point of view. However, some authors have demonstrated a relation between structural chromosome variant 17-18 and the occurrence of congenital malformations (Littlefield et al 1966, Daly 1970, Battaglia et al 1971).…”

Friedreich's Ataxia: Observations with Q and G Banding of Human Chromosomes

“…Such anomalies of the sex chromosomes, trisomy or partial monosomy for one member of a group of autosomes were described in different syndromes. Recent techniques make it possible to study chromosomes in various arrangements, in their balanced or unbalanced forms, and variations in the morphology of one homologue of a pair by comparison with the other (Battaglia et al, 1971). Friedreich's ataxia is usually inherited as an autosomal recessive.…”