45,X/46,XY qh–karyotype and aspermia. Case report
A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X a...
Збережено в:
| Дата: | 2012 |
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| Автори: | , , |
| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
Інститут клітинної біології та генетичної інженерії НАН України
2012
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| Назва видання: | Цитология и генетика |
| Теми: | |
| Онлайн доступ: | http://dspace.nbuv.gov.ua/handle/123456789/126478 |
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| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Цитувати: | 45,X/46,XY qh–karyotype and aspermia. Case report / G.R. Mendeluk, E.M. Pardes, S. López-Costa // Цитология и генетика. — 2012. — Т. 46, № 4. — С. 27-30. — Бібліогр.: 13 назв. — англ. |
Репозитарії
Digital Library of Periodicals of National Academy of Sciences of Ukraine| Резюме: | A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh–. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed. |
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