A 5p;22q reciprocal translocation with a high risk for segregation of unbalanced offspring

Abstract

A family with an autosomal reciprocal translocation t(5;22) (p15.3;q11.2) was studied. The mode of segregation and the risk of chromosomal unbalance is discussed and compared to the more common 11 ;22 translocation.

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

“…To assess an unbiased comparison of clinical features and survival rate, we only included patients with a pure terminal duplication of chromosome 22 described in the literature plus our three patients in Table 2 [5,7,[9][10][11][13][14][15]18,20,21]. Again, four groups are distinguished: large (N = 8), intermediate (N = 2), small (N = 3) and the smallest duplications (N = 3).…”

“…However, duplications of the distal long arm of chromosome 22 (22qter) seem to be exceedingly rare. To our knowledge, a duplication of 22q12 or 22q13 to 22qter has been described in 21 patients [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21].…”

Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features

“…Ocular coloboma is found in 7 out of 11 cases with probable tetrasomy, and in the trisomic cases described by Jensen (1 984) and Niermeijer et al (1 976). The repeated suggestion that coloboma in CES could be caused by partial trisomy or monosomy 13, should be considered cautiously as the involved chromosome in the case of Jensen (1984) is a chromosome 5.…”