Recombinant chromosome 14 due to maternal pericentric inversion

• Authors: V. Sliuzas , A. Utkus , V. Kucinskas
• Languages of publication: EN

Abstracts

EN

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).

Keywords

EN

CHROMOSOME 14; CONGENITAL MALFORMATION; INVERSION; RECOMBINANT CHROMOSOME; TRISOMY

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 2
• Pages: 205-207

Contributors

author

V. Sliuzas

author

A. Utkus

author

V. Kucinskas

• Document Type: ARTICLE
• Publication order reference: Vaidutis Kucinskas, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskir 2, LT-08661, Vilnius, Lithuania