A family with pericentric inversion of chromosome 12

Abstract

SummaryA heterozygous pericentric inversion of chromosome 12 (inv(12)) was prenatally diagnosed. The breakpoints were localized to p12.3 and q14, resulting in more than one-third of the total length of the chromosome being inverted. The inversion was transmitted from the father whose phenotype was completely normal. The newborn also showed normal phenotype and grew without any clinical problems. The parents had no history of infertility. Based on these facts, it is indicated that pericentric inv(12) (p12.3q14) does not affect phenotype.

Chromosomal defects in infertile men with poor semen quality

“…This anomaly was reported earlier in patients with malignant hematologic disorders [23,35] and in patients with familial pericentric inversion [18,38,41]. Also, a case of primary male infertility associated with centric inversion of chromosome 12 was described [36].…”

Paracentric inversion of chromosome 14: A case report

“…For example, the risk of abnormalities is indeed very low in pericentric inversion of chromosome 9 (Uehara etal., 1992) and the risk is relatively low in pericentric inversion of chromosome 12 (Uehara et al, 1994). However, in contrast with those pericentric inversions, the risk in carriers of paraeentric inversion of chromosome 14 is considerably high.…”

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

“…Three different problems have previously been encountered in families with pericentric inversions: an increased risk of unbalanced karyotypes because of meiotic crossing‐over inside the inverted area, an increased risk of additional chromosomal aberrations probably due to an inter‐chromosomal effect, and an increased risk of reproductive failure. Several familial pericentric inversions of chromosome 12 without full‐term aneuploid offspring were reported [Kim et al, 1980; Poulsen et al, 1981; Prieto et al, 1981; Groupe de Cytogénéticiens Français, 1986; Voiculescu et al, 1986; Kleczkowska et al, 1987; Varela et al, 1987; Haagerup and Hertz, 1992; Uehara et al, 1994]. Contrary to these reports, the cases of Watson et al [1987], Speleman et al [1993], and our patients resulted from the unbalance of a familial pericentric inversion with a large inverted segment involving the breakpoints q24.3 and p13.3, or q24.4 and p11.…”