{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T18:54:22Z","timestamp":1719600862809},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"11-12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.<\/jats:p><jats:p>This was a retrospective evaluation of the clinical and laboratory records of patients with TS.<\/jats:p><jats:p>Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.<\/jats:p><jats:p>Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.<\/jats:p>","DOI":"10.1515\/jpem-2014-0287","type":"journal-article","created":{"date-parts":[[2014,11,6]],"date-time":"2014-11-06T17:01:48Z","timestamp":1415293308000},"source":"Crossref","is-referenced-by-count":2,"title":["Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience"],"prefix":"10.1515","volume":"28","author":[{"given":"Sarar","family":"Mohamed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edna F.","family":"Roche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilary 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