Turner Syndrome with Isochromosome Xq
| dc.contributor.author | Erdal, Gulbahar Guzel | |
| dc.contributor.author | Balkan, Mahmut | |
| dc.date.accessioned | 2024-04-24T16:24:09Z | |
| dc.date.available | 2024-04-24T16:24:09Z | |
| dc.date.issued | 2020 | |
| dc.department | Dicle Üniversitesi | en_US |
| dc.description.abstract | Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype-genotype description of Turner syndrome, which makes it an important contribution to the literature. | en_US |
| dc.description.sponsorship | Dicle University Research Fund (DUBAP) [TIP.18.036] | en_US |
| dc.description.sponsorship | This project is funded by the Dicle University Research Fund (DUBAP, Project No. TIP.18.036). | en_US |
| dc.identifier.doi | 10.1055/s-0039-3399496 | |
| dc.identifier.endpage | 245 | en_US |
| dc.identifier.issn | 2146-4596 | |
| dc.identifier.issn | 2146-460X | |
| dc.identifier.issue | 4 | en_US |
| dc.identifier.pmid | 32765927 | |
| dc.identifier.startpage | 243 | en_US |
| dc.identifier.uri | https://doi.org/10.1055/s-0039-3399496 | |
| dc.identifier.uri | https://hdl.handle.net/11468/16542 | |
| dc.identifier.volume | 9 | en_US |
| dc.identifier.wos | WOS:000553529300004 | |
| dc.identifier.wosquality | N/A | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | PubMed | |
| dc.language.iso | en | en_US |
| dc.publisher | Georg Thieme Verlag Kg | en_US |
| dc.relation.ispartof | Journal of Pediatric Genetics | |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Turner Syndrome | en_US |
| dc.subject | Isochromosome | en_US |
| dc.subject | Phenotype | en_US |
| dc.subject | Genotype | en_US |
| dc.title | Turner Syndrome with Isochromosome Xq | en_US |
| dc.title | Turner Syndrome with Isochromosome Xq | |
| dc.type | Article | en_US |
