Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/3796415 |
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| _version_ | 1832564576077479936 |
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| author | Hanane Latrech Houssein Madar Ahmed Gaouzi |
| author_facet | Hanane Latrech Houssein Madar Ahmed Gaouzi |
| author_sort | Hanane Latrech |
| collection | DOAJ |
| description | Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation. |
| format | Article |
| id | doaj-art-dd34dc78c9be4f43856415e1360016e2 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-dd34dc78c9be4f43856415e1360016e22025-02-03T01:10:46ZengWileyCase Reports in Endocrinology2090-65012090-651X2018-01-01201810.1155/2018/37964153796415Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)Hanane Latrech0Houssein Madar1Ahmed Gaouzi2Department of Endocrinology, Mohammed VI Hospital, Medical School, University Mohamed First, 60 000 Oujda, MoroccoDepartment of Endocrinology Paediatrics, Medical School, Mohammed V University, Hôpital d’Enfants, 10 000 Rabat, MoroccoDepartment of Endocrinology Paediatrics, Medical School, Mohammed V University, Hôpital d’Enfants, 10 000 Rabat, MoroccoTurner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.http://dx.doi.org/10.1155/2018/3796415 |
| spellingShingle | Hanane Latrech Houssein Madar Ahmed Gaouzi Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) Case Reports in Endocrinology |
| title | Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) |
| title_full | Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) |
| title_fullStr | Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) |
| title_full_unstemmed | Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) |
| title_short | Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) |
| title_sort | combination of gonadal dysgenesis and monosomy x with a novo translocation 13 14 |
| url | http://dx.doi.org/10.1155/2018/3796415 |
| work_keys_str_mv | AT hananelatrech combinationofgonadaldysgenesisandmonosomyxwithanovotranslocation1314 AT housseinmadar combinationofgonadaldysgenesisandmonosomyxwithanovotranslocation1314 AT ahmedgaouzi combinationofgonadaldysgenesisandmonosomyxwithanovotranslocation1314 |