Turner Syndrome and Its Variants
Turner syndrome (TS) is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2017-12-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: | http://jpedres.org/archives/archive-detail/article-preview/turner-syndrome-and-ts-variants/165062147-9445 |
| _version_ | 1797910552682430464 |
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| author | Semra Gürsoy Derya Erçal |
| author_facet | Semra Gürsoy Derya Erçal |
| author_sort | Semra Gürsoy |
| collection | DOAJ |
| description | Turner syndrome (TS) is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS. |
| first_indexed | 2024-04-10T11:26:13Z |
| format | Article |
| id | doaj.art-0c1fe12d8e104f1ab983cab077e67e56 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 |
| language | English |
| last_indexed | 2024-04-10T11:26:13Z |
| publishDate | 2017-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-0c1fe12d8e104f1ab983cab077e67e562023-02-15T16:18:22ZengGalenos YayineviJournal of Pediatric Research2147-94452017-12-014417117510.4274/jpr.35744Turner Syndrome and Its VariantsSemra Gürsoy0Derya Erçal1Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, TurkeyTurner syndrome (TS) is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.http://jpedres.org/archives/archive-detail/article-preview/turner-syndrome-and-ts-variants/165062147-9445Turner syndromemosaicismisochromosomering chromosomeshort stature |
| spellingShingle | Semra Gürsoy Derya Erçal Turner Syndrome and Its Variants Journal of Pediatric Research Turner syndrome mosaicism isochromosome ring chromosome short stature |
| title | Turner Syndrome and Its Variants |
| title_full | Turner Syndrome and Its Variants |
| title_fullStr | Turner Syndrome and Its Variants |
| title_full_unstemmed | Turner Syndrome and Its Variants |
| title_short | Turner Syndrome and Its Variants |
| title_sort | turner syndrome and its variants |
| topic | Turner syndrome mosaicism isochromosome ring chromosome short stature |
| url | http://jpedres.org/archives/archive-detail/article-preview/turner-syndrome-and-ts-variants/165062147-9445 |
| work_keys_str_mv | AT semragursoy turnersyndromeanditsvariants AT deryaercal turnersyndromeanditsvariants |