Journal of Applied Genetics 49(2), 2008, pp. 205-207

Recombinant chromosome 14 due to maternal pericentric inversion

Vytautas Sliuzas, Algirdas Utkus, Vaidutis Kucinskas

Abstract: Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband's G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.1qter). This abnormality has been confirmed by custom BAC FISH analysis. His mother's karyotype was 46,XX,inv(14)(p11.2q32.1).

Key words: chromosome 14 inversion, congenital malformations, distal 14q trisomy, pericentric inversion, recombinant chromosome

Correspondence: V. Kucinskas, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskir 2, LT-08661, Vilnius, Lithuania; e-mail: Vaidutis.Kucinskas@santa.lt