Sliuzas Vytautas, Utkus Algirdas, Kucinskas Vaidutis
Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
J Appl Genet. 2008;49(2):205-7. doi: 10.1007/BF03195614.
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).
14号染色体经常参与各种染色体重排，其中大多数是平衡的。人类14号染色体是近端着丝粒染色体，因此其臂间倒位极其罕见（文献中仅描述了少数病例）。在此，我们报告一名患有先天性畸形的男孩，他从母亲那里遗传了一条带有臂间倒位的重组14号染色体。先证者的G显带染色体分析显示有衍生的14号染色体。比较基因组杂交分析确定14q末端部分重复，即ish cgh dup(14)(q32.1qter)。这一异常已通过定制BAC FISH分析得到证实。他母亲的核型为46,XX,inv(14)(p11.2q32.1)。
