Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q−) in three generations

Trisomy 9p syndrome and XYY syndrome in siblings

“…T o our knowledge ectopia lentis has not been recorded earlier in trisomy 9p or the XYY syndrome. Eccentric pupils have been reported, however, in a patient with trisomy 9p syndrome (Podruch & Weisskopf 1974).…”

“…9 was shown in 1970 by Rethori et al to constitute a specific syndrome (the trisomy 9p syndrome). This syndrome, which has since been reported in several children (Cantu et al 1971, Hoehn et al 1971, Rott et al 1971, Baccichetti & Tenconi 1973, RethorC et al 1973, Podruch & Weisskopf 1974, Turleau et al 1974, Blank et al 1975, Jacobsen et al 1975, Mason et al 1975, Orye et al 1975, Penchaszadeh & COCO 1975, Philippe et al 1975, Centerwall et al 1976, Magnelli 1976, has usually been the result of a translocation. The purpose of this report is to present two adult brothers with this chromosomal aberration, which was due to a balanced translocation (9:22) in the mother, A third brother had a 47, XYY karyotype.…”

Pure partial trisomy for long arm of chromosome 9.

“…Rethore et al (1973) and Zaremba et al (1974) have reviewed the features of trisomy for the short arm of this chromosome. Further cases have been reported by Newton et al (1972), Baccichetti and Tenconi (1973), Podruch and Weisskopf (1974), Fujita et al (1974), and Dinno, Silvey, and Weisskopf (1974). Several of these cases have break points on the long arm of the chromosome and are therefore trisomic for some or all of the secondary constriction region also.…”

Partial trisomies 9 and 4 resulting from maternal translocation t(4; 9) (q25?; q13)

“…As far as we know, tertiary trisomy 9p or 9q-has been described in 20 families with reciprocal translocations. Eight cases out of them resulted from translocations between an acrocentric and a chromosome 9 (Rethor6 et al, 1973;Podruch and Weisskopf, 1974;Turleau et al, 1974;Balicek et al, 1975;Philippe et aL, 1975;Abe et aL, 1976;Lewandowski et al, 1976;Habedank and Faust, 1978), and the remaining 12 cases had translocations between a nonacrocentric chromosome and a chromosome 9 (Rott et al, 1971 ;Rethor6 et al, I973;Rethor6 et at., 1974;Schwanitz et aL, 1974;Centerwall et al, 1975;Lindenbaum and Bobrow, 1975;Mason et al, 1975;Penchaszadeh and Coco, 1975;Stoll et al, 1975;Sutherland et al, 1976;Moirot et al, 1977;Neu et at., 1979). In the latter group, it should be noted that the following three features were shared by all of the cases: (1) the 3 : 1 disjunction was derived from a maternal translocation; (2) no unbalanced offspring due to 2 : 2 segregation have been ascertained in the same family; and (3) the derivative chromosome 9, which was always shorter than the other translocation chromosome, had a breakpoint on its long arms and retained more or less the heterochromatic region (gqh).…”