Ambiguous Genitalia, Gonadoblastoma, Aniridia and Mental Retardation with Deletion of Chromosome 11
| Autor: | N. Toran, J. Martínez-Mora, Castellví A, M. Perez Iribarne, J. Egozcue, Isnard Rm, Laura Audí |
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| Rok vydání: | 1989 |
| Předmět: |
Male
Gynecology Genetics medicine.medical_specialty Adolescent Psychomotor retardation business.industry Chromosomes Human Pair 11 Urology Disorders of Sex Development Chromosome Gonadoblastoma Karyotype Dysgerminoma medicine.disease Pedigree Ambiguous genitalia Aniridia Intellectual Disability medicine Humans Chromosome Deletion medicine.symptom business |
| Zdroj: | Journal of Urology. 142:1298-1300 |
| ISSN: | 1527-3792 0022-5347 |
| DOI: | 10.1016/s0022-5347(17)39064-x |
| Popis: | We describe a patient with ambiguous genitalia, gonadoblastoma, aniridia, mental retardation and 46XY, del (ll)(pl3) karyotype. To our knowledge this association has been observed in only 2 patients to date. (J. Urol., 142: 1298–1300, 1989) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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