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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion |
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| Authors: | Farmaditya EP Mundhofir Dominique Smeets Willy Nillesen Tri Indah Winarni Helger G Yntema Nicole de Leeuw Ben CJ Hamel Sultana MH Faradz Bregje WM van Bon |
| Institution: | 1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands;2. Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University GSG 2nd floor Jl. Dr. Sutomo 14, Semarang, Indonesia |
| Abstract: | Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460 kb loss of 9p24.3 and a terminal 8.9 Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13. |
| Keywords: | CEBIOR Center for Biomedical Research CNAG Copy Number Analyzer for Affymetrix Genechip mapping DECIPHER Database of chromosomal imbalance and phenotype in humans using Ensembl Resources DGHE Directorate of Higher Education DGV Database of Genomic Variants ECARUCA European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations FISH Fluorescence in situ Hybridization GTG G-banding with trypsin-Giemsa ID intellectual disability Kb kilobase (thousand base pairs) Mb megabase (million base pairs) MLPA multiplex ligation-dependent probe amplification OMIM Online Mendelian Inheritance in Man RUNMC Radboud University Nijmegen Medical Centre SNP single nucleotide polymorphism UCSC University of California Santa Cruz |
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