遺伝障害と遺伝レポートのジャーナル

A Rare Familial Paracentric Inversion in the Long Arm of Chromosome 8: Case Report and Review of the Literature

Kouvidi E, Tsarouha H, Zachaki S, Mitrakos A, Sfakianoudis K, Kanavakis E, Mavrou A

Background/Aim: The incidence of paracentric inversions (PAI)in the general population ranges from 0.09-0.49/1,000 and PAIs involving a relatively short chromosome segment, are generally considered to be harmless. However, PAI carriers have a very low risk to give rise to a viable zygote (3.8%).To present a rare case of a healthy individual, carrier of an 8q paracentric inversion.

Methods: A 37-year-old man and his 30-year-old wife were referred for karyotypic analysis due to a previous miscarriage at 33 weeksof gestation. Cytogenetic analysis was performed on peripheralblood lymphocytes by GTG banding. Molecular karyotype analysis performed using Agilent G3 4x180 K CGH+SNP microarray platform.

Results: The wife had a normal karyotype 46,XX but the man’s karyotype was 46,XY,inv(8)(q23.1q24.2). Karyotypic analysis ofhis parents revealed that his mother carried the same inversion.Molecular analysis reported no duplication or loss in or near the inverted region.

Conclusions: Review of the literature revealed the rarity ofchromosome 8 paracentric inversions and showed that although the risk of a carrier to have an abnormal offspring is low, in cases of large inversions or previous abortions prenatal diagnosis should be offered by conventional and molecular cytogenetic techniques.