A Family with a Balanced C/C Translocation Carrier and an Unbalanced 47, XY, (Cq−) + Son

Abstract

SummaryAn account is given of a family identified by a newborn malformed male. The chromosome anomalies described are interpreted as indicating that the father has a balanced translocation with a reciprocal exchange between no. 9 and no. 12. The supernumerary chromosome resembling a group F element, which is found in the propositus, is in fact one of the two rearranged chromosomes present in the father. The propositus therefore is trisomic for part of no. 9 and no. 12. His brother has a normal karyotype. Possible meiotic situations leading to the formation of the observed karyotypes are discussed.

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

“…Comparison on a length basis shows an over-representation of groups D, E, and G (Table IV). Comparison on a chromosome Guanti et al (1971) 9p+;12q-(or 9q -; 12p +) 12 Hamerton (1971) Dp+;16q Lejeune et al (1970a) 18q-;Fq+ 15 Lejeune et al (1972) 8q;22qt Ford and Clegg (1969) shows an over-representation of group G and under-representation of group B in the 3: 1 series ( Table V). The relatively high intra-uterine viability of trisomies 13, 18, and 21 might in part explain the high frequency of D-, E-, and G-group chromosomes in the 3: 1 series.…”

“…Comparison on a length basis shows an over-representation of groups D, E, and G (Table IV). Comparison on a chromosome Guanti et al (1971) 9p+;12q-(or 9q -; 12p +) 12 Hamerton ( Lejeune et al (1970a) 18q-;Fq+ 15 Lejeune et al (1972) 8q;22qt 16 Macintyre et al (1964) Hall (1963b) ?-;21p+tt TT; IT (Down's) 52 Hauschtek et al (1966) 13q-;17 or 18p+ TT; UB2:2 (partial 13 and 18 trisomies) 53 Jacobsen et al (1963; 1965/1966) ?or ? + -denotes translocation derivative of unidentified chromosome; TT = tertiary trisomy; IT = interchange trisomy; TM = tertiary monosomy; UB2 :2 = unbalanced offspring resulting from 2:2 disjunction (adjacent-i or -2, or alternate with cross-over in interstitial segment).…”

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

“…The clinical findings in the propositus were supposed to be the result of a partial trisomy for 9 and 12. (Guanti et al, 1970c). CASE 3: 13-year-old boy, third sib of unrelated parents; hospitalized for a recurrent sepsis.…”

“…Since 1966, a survey on chromosomal abnormalities in the Italian people has been conducted by the authors in cooperation with clinicians working in many medical fields. Many subjects of these studies have been already described (Battaglia, 1966;Guanti, 1968;Guanti and Balacco-Gabrieli, 1968;Racanelli et al, 1968;Balacco-Gabrieli and Guanti, 1969;Guanti et al, 1969;Schettini et al, 1969;Torelli and Guanti, 1969;Guanti and Barsanti, 1970;Tannoia et al, 1970;Guanti et al, 1970a;Guanti and Petrinelli, 1970b;Guanti et al, 1970c;Guanti et al, i97od;Morea and Guanti, 1970;Pansini et al, 1970;Rutigliano et al, 1970).…”