Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization
| Autor: | S. Romana, Caroline Schluth-Bolard, Emmanuelle Banquart, Damien Sanlaville, Marc Le Lorc'h, Marie-Pierre Cordier, Christelle Angei, Azim Rafat, Audrey Labalme, Patrick Edery, Marianne Till |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Monosomy Clinodactyly Aneuploidy Trisomy Biology Molecular cytogenetics Genomic Imprinting Chromosome 19 Genetics medicine Humans Genetics (clinical) In Situ Hybridization Fluorescence Chromosomal inversion Siblings Nucleic Acid Hybridization Karyotype General Medicine medicine.disease Chromosome Banding Pedigree Child Preschool Karyotyping Chromosome Inversion Female medicine.symptom Chromosomes Human Pair 19 |
| Zdroj: | European journal of medical genetics. 51(6) |
| ISSN: | 1878-0849 |
| Popis: | Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard karyotype and usual subtelomeric FISH probes. This inversion was transmitted in its balanced and in its recombinant form to the offspring. The two children carrying the recombinant chromosome 19 presented with growth and mental retardation, microcephaly, mild facial dysmorphism and clinodactyly. The recombinant chromosome 19 was characterized by FISH and array CGH. It consisted of a 400 kb 19pter deletion and a 6.9 Mb (19q13.33-qter) duplication. This observation supports the recombination risk of pericentric inversion of chromosome 19 and emphasizes the role of molecular cytogenetics techniques in the characterization of chromosome 19 rearrangements. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect