Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
| Autor: | Andrea Ballabio, A. Caiulo, Pietro Strisciuglio, Orsetta Zuffardi, Massimo Zollo, C. F. Cascioli, Romeo Carrozzo, D. Viggiano |
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| Přispěvatelé: | Ballabio, Andrea, Zollo, Massimo, Carrozzo, R, Caiulo, A, Zuffardi, O, Cascioli, Cf, Viggiano, D, Strisciuglio, Pietro, Ballabio, A, R., Carrozzo, A., Caiulo, O., Zuffardi, C. F., Cascioli, D., Viggiano |
| Rok vydání: | 1991 |
| Předmět: |
musculoskeletal diseases
Male medicine.medical_specialty Chondrodysplasia Punctata X Chromosome Dwarfism Biology Short stature Contiguous gene syndrome Internal medicine medicine Steroid sulfatase Humans Chondrodysplasia punctata Abnormalities Multiple Genetics (clinical) X chromosome Sex Chromosome Aberrations Arylsulfatases X-linked ichthyosis Ichthyosis Infant Newborn Chromosome medicine.disease Endocrinology Phenotype Steryl-Sulfatase medicine.symptom Chromosome Deletion |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0148-7299 |
| Popis: | We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another example of a contiguous gene syndrome in which the co-deletion of adjacent genes on a chromosome is responsible for a complex phenotype. |
| Databáze: | OpenAIRE |
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