Clinical Evidence of Crossover in the SHOX Gene
Mutations of the SHOX gene are cause of various genetic growth disorders, ranging from isolated short stature to Leri-Weill Syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the father's Y chromosome but tr...
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| Format: | Article |
| Language: | English |
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Van Yuzuncu Yil University, School of Medicine
2021-01-01
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| Series: | Van Tıp Dergisi |
| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-34356 |
| _version_ | 1827612838548471808 |
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| author | Emine Göktaş Mahmut Selman Yıldırım |
| author_facet | Emine Göktaş Mahmut Selman Yıldırım |
| author_sort | Emine Göktaş |
| collection | DOAJ |
| description | Mutations of the SHOX gene are cause of various genetic growth disorders, ranging from isolated short stature to Leri-Weill Syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the father's Y chromosome but transmitted to daughter's X chromosome by crossover during meiosis. The female index patient presented with disproportionate short stature and mesomelia. Her father, sister and paternal aunt showed disproportionate short stature and mesomelic shortenings of the limbs but her brother was normal stature. Their chromosome analyses were normal but metaphase fluorescence in situ hybridization (FISH) analysis showed a deletion of the SHOX gene on the X chromosome of the index patient, her sister and her paternal aunt but on the Y chromosome of index patient's father. Interestingly, the index patient's brother FISH analysis was normal. This family is presented as clinical evidence of crossover in the SHOX gene. |
| first_indexed | 2024-03-09T08:30:04Z |
| format | Article |
| id | doaj.art-bacc852d02ad4c22bb75669272ff0e18 |
| institution | Directory Open Access Journal |
| issn | 2587-0351 |
| language | English |
| last_indexed | 2024-03-09T08:30:04Z |
| publishDate | 2021-01-01 |
| publisher | Van Yuzuncu Yil University, School of Medicine |
| record_format | Article |
| series | Van Tıp Dergisi |
| spelling | doaj.art-bacc852d02ad4c22bb75669272ff0e182023-12-02T20:22:31ZengVan Yuzuncu Yil University, School of MedicineVan Tıp Dergisi2587-03512021-01-0128115916210.5505/vtd.2021.34356VTD-34356Clinical Evidence of Crossover in the SHOX GeneEmine Göktaş0Mahmut Selman Yıldırım1Department Of Medical Genetics, Van Education And Research Hospital, Health Science University, Van, TurkeyDepartment Of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, TurkeyMutations of the SHOX gene are cause of various genetic growth disorders, ranging from isolated short stature to Leri-Weill Syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the father's Y chromosome but transmitted to daughter's X chromosome by crossover during meiosis. The female index patient presented with disproportionate short stature and mesomelia. Her father, sister and paternal aunt showed disproportionate short stature and mesomelic shortenings of the limbs but her brother was normal stature. Their chromosome analyses were normal but metaphase fluorescence in situ hybridization (FISH) analysis showed a deletion of the SHOX gene on the X chromosome of the index patient, her sister and her paternal aunt but on the Y chromosome of index patient's father. Interestingly, the index patient's brother FISH analysis was normal. This family is presented as clinical evidence of crossover in the SHOX gene.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-34356crossoverpseudoautosomal regionshox gene |
| spellingShingle | Emine Göktaş Mahmut Selman Yıldırım Clinical Evidence of Crossover in the SHOX Gene Van Tıp Dergisi crossover pseudoautosomal region shox gene |
| title | Clinical Evidence of Crossover in the SHOX Gene |
| title_full | Clinical Evidence of Crossover in the SHOX Gene |
| title_fullStr | Clinical Evidence of Crossover in the SHOX Gene |
| title_full_unstemmed | Clinical Evidence of Crossover in the SHOX Gene |
| title_short | Clinical Evidence of Crossover in the SHOX Gene |
| title_sort | clinical evidence of crossover in the shox gene |
| topic | crossover pseudoautosomal region shox gene |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=vtd&un=VTD-34356 |
| work_keys_str_mv | AT eminegoktas clinicalevidenceofcrossoverintheshoxgene AT mahmutselmanyıldırım clinicalevidenceofcrossoverintheshoxgene |