Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.
| Τίτλος | Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties. |
| Publication Type | Journal Article |
| Year of Publication | 2015 |
| Authors | Kontodiou, M., Daskalakis G., Vetro A., Paspaliaris V., Papaioannou G., Dagklis T., Tsakiridis I., Ziegler M., Liehr T., Thomaidis L., Papoulidis I., & Manolakos E. |
| Journal | Cytogenet Genome Res |
| Volume | 147 |
| Issue | 2-3 |
| Pagination | 118-23 |
| Date Published | 2015 |
| ISSN | 1424-859X |
| Λέξεις κλειδιά | Abnormalities, Multiple, Child, Chromosome Breakage, Chromosome Breakpoints, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 8, Comparative Genomic Hybridization, Face, Family Health, Female, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Karyotype, Learning Disabilities, Male, Pedigree, Translocation, Genetic |
| Abstract | Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving 3 or more cytogenetic break events on 2 or more different chromosomes. Here, we report a 7-year-old girl referred to our unit because of mild dysmorphic facial features, mild learning difficulties together with very mild mental retardation. Standard cytogenetic banding analysis revealed a de novo CCR involving chromosomes 1, 2 and 18. Further molecular investigation with aCGH revealed a cryptic interstitial deletion of 2.7 Mb in 18q22.1, which does not elicit a significant clinical phenotype. FISH was performed to confirm both molecular and cytogenetic results. |
| DOI | 10.1159/000442583 |
| Alternate Journal | Cytogenet Genome Res |
| PubMed ID | 26681178 |
