Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome
| Autor: | Frank Visscher, Jan O. Van Hemel, Annette A. van der Heide, Cokkie H. Wouters, B. Eussen, Hanne Meijers-Heijboer, Rob B. van Luijk, B Beverloo, Ellen van Drunen |
|---|---|
| Přispěvatelé: | Other departments, Clinical Genetics, Public Health, Molecular Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Genetics
Adult Williams Syndrome medicine.diagnostic_test Triphalangeal thumb Breakpoint Karyotype Chromosomal rearrangement Biology medicine.disease Molecular biology Chromosome Banding Chromosome regions Karyotyping medicine Humans Female Williams syndrome Chromosome Deletion Chromosome 22 Genetics (clinical) Chromosomes Human Pair 7 In Situ Hybridization Fluorescence Fluorescence in situ hybridization |
| Zdroj: | American journal of medical genetics, 102(3), 261-265. Wiley-Liss Inc. American Journal of Medical Genetics, 102(3), 261-265. Wiley-Liss Inc. |
| ISSN: | 0148-7299 |
| Popis: | We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text