First Report of Two Rare Entities in a Family: 49,xxxxy and 45,x
| dc.authorwosid | Sahin, Yavuz/E-9966-2013 | |
| dc.contributor.author | Sahin, Yavuz | |
| dc.contributor.author | Ozcan, Aysegul | |
| dc.date.accessioned | 2025-05-10T17:03:40Z | |
| dc.date.available | 2025-05-10T17:03:40Z | |
| dc.date.issued | 2017 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | [Sahin, Yavuz] Necip Fazl City Hosp, Dept Med Genet, TR-46050 Kahramanmaras, Turkey; [Ozcan, Aysegul] Yuzuncu Yil Univ, Dept Med Genet, Fac Med, Van, Turkey | en_US |
| dc.description.abstract | 49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopaedics, psychiatry, and clinical genetic evaluations. To our knowledge, our cases are the first to report the sibling patients with 49,XXXXY and 45,X. | en_US |
| dc.description.woscitationindex | Emerging Sources Citation Index | |
| dc.identifier.doi | 10.1055/s-0037-1598027 | |
| dc.identifier.endpage | 176 | en_US |
| dc.identifier.issn | 2146-4596 | |
| dc.identifier.issn | 2146-460X | |
| dc.identifier.issue | 3 | en_US |
| dc.identifier.pmid | 28794910 | |
| dc.identifier.scopusquality | N/A | |
| dc.identifier.startpage | 174 | en_US |
| dc.identifier.uri | https://doi.org/10.1055/s-0037-1598027 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/5783 | |
| dc.identifier.volume | 6 | en_US |
| dc.identifier.wos | WOS:000407377100007 | |
| dc.identifier.wosquality | N/A | |
| dc.language.iso | en | en_US |
| dc.publisher | Georg Thieme verlag Kg | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | 49,Xxxxy | en_US |
| dc.subject | 45,X | en_US |
| dc.subject | Meiotic Segregation | en_US |
| dc.title | First Report of Two Rare Entities in a Family: 49,xxxxy and 45,x | en_US |
| dc.type | Article | en_US |