Mavrou A Author

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

Author(s):

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 pla... view more»

DOI: 10.4172/2327-5790.1000152

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