Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma
| Autor: | Málková J, Kobilková J, Kyra Michalova, Luboslav Stárka, Motlík K, Chrz R |
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| Rok vydání: | 1975 |
| Předmět: |
Adult
endocrine system congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Sex Chromosomes Turner Syndrome Gonadal dysgenesis Chromosome Gonadoblastoma Karyotype Dysgerminoma Biology medicine.disease Short stature Dicentric chromosome Endocrinology Karyotyping Internal medicine Genetics medicine Humans Female medicine.symptom Metabolic disease Genetics (clinical) |
| Zdroj: | Human Genetics. 27:251-253 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00278354 |
| Popis: | A patient with a short stature, gonadal dysgenesis, and bilateral gonadoblastoma had 3 cell lines in the blood and in the skin: 46,X,dic (Y) (pter vector q 1 2 : : 1 2 vector pter) as a major cell line 46,X,del(Y) (q 1 2), and 45,X. The intensively flourescent distal part of the Yq was deleted in both the Y-dicentric and Yq--chromosome. Both parents had normal karyotypes. |
| Databáze: | OpenAIRE |
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