De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)
| ISSN: | 1399-0004 0009-9163 |
|---|---|
| DOI: | 10.1111/j.1399-0004.1996.tb02401.x |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2c46c6a9532ca8eff3b7febdb404fc4 https://doi.org/10.1111/j.1399-0004.1996.tb02401.x |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....e2c46c6a9532ca8eff3b7febdb404fc4 |
| Autor: | M. Schliephacke, C. Backsch, H. B.G. Franz, G. Mielke, G. Niemann |
| Rok vydání: | 2008 |
| Předmět: |
Heart Defects
Congenital Male Chromosome 7 (human) Genetics medicine.medical_specialty medicine.diagnostic_test Hybridization probe Cytogenetics Infant Karyotype Biology Molecular biology Intellectual Disability Multigene Family dup Gene duplication medicine Humans Abnormalities Multiple Tandem exon duplication Chromosomes Human Pair 7 In Situ Hybridization Fluorescence Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | Clinical Genetics. 50:426-429 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1996.tb02401.x |
| Popis: | We report a boy with duplication of a small segment of the short arm of chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The boy presented with supravalvular pulmonary stenosis, atrial septum defect and mental retardation. The origin of the additional material from chromosome 7 was confirmed by fluorescence in situ hybridization. This technique in combination with the use of single-copy DNA probes may in future help to delineate the phenotype/karyotype correlation. |
| Databáze: | OpenAIRE |
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