| Autor: |
Vreeburg, M., Sallevelt, C. E. H., Stegmann, A. P. A., van Geel, M., Detisch, Y. J. H. A., Schrander-Stumpel, C. T. R. M., van Steensel, M. A. M., Marcus-Soekarman, D. |
| Přispěvatelé: |
RS: GROW - Developmental Biology, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA Pat Cytologie (9), MUMC+: MA Dermatologie (9), Dermatologie |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
Clinical Genetics, 85(4), 328-335. Wiley |
| ISSN: |
0009-9163 |
| Popis: |
In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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