TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7
| Autor: | Patrick Edery, Catherine Rey, Vladimir Lazar, Damien Sanlaville, Anne Fautrelle, Marc Le Lorc'h, Caroline Schluth-Bolard, Serge Romana, Emmanuelle Banquart, Audrey Labalme, Marianne Till, Tanguy Martin-Denavit |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Acrocephalosyndactylia Chromosomal translocation Biology Genetics medicine Humans Syndactyly Genetics (clinical) Oligonucleotide Array Sequence Analysis Gene Rearrangement Chromosome 7 (human) Twist-Related Protein 1 Brachydactyly Infant Newborn Nuclear Proteins Nucleic Acid Hybridization Dysostosis Karyotype General Medicine medicine.disease Phenotype Child Preschool Chromosomes Human Pair 2 Female Saethre–Chotzen syndrome Chromosomes Human Pair 7 Gene Deletion |
| Zdroj: | European Journal of Medical Genetics. 51:156-164 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2007.12.003 |
| Popis: | Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 microdeletions involving the entire gene have also been described. The patient reported here presented with craniosynostosis, ptosis, brachydactyly and syndactyly of toes. Standard lymphocyte karyotype showed a de novo apparently balanced but complex constitution with a translocation between the short arms of chromosomes 2 and 7 and an insertion of the 7(q21.3q22) band in the short arm of the same chromosome 7. Interestingly, array CGH displayed a unique 690 kb deletion in 7p21.3 involving the TWIST gene, consistent with the phenotype. This case illustrates the important contribution of array CGH to identification of complex chromosomal rearrangements. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect