{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T00:12:47Z","timestamp":1790381567822,"version":"4.1.0"},"reference-count":0,"publisher":"Ordem dos Medicos","issue":"7-8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introduction: Intellectual disability affects 2% \u2013 3% of the general population, with a chromosomal abnormality being found in 4% \u2013 28%\u00a0of these patients and a cryptic subtelomeric abnormality in 3% \u2013 16%. In most cases, these subtelomeric rearrangements are submicroscopic,\u00a0requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent\u00a0or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical\u00a0genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with\u00a0subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior\u00a0changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by\u00a0conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not\u00a0possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication\u00a0syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric\u00a0changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember\u00a0that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate\u00a0genetic counselling and screening of family members at risk for recurrence.<\/jats:p>","DOI":"10.20344\/amp.11466","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T14:53:11Z","timestamp":1568213591000},"page":"529-535","source":"Crossref","is-referenced-by-count":2,"title":["Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases"],"prefix":"10.20344","volume":"32","author":[{"given":"Ana Rita","family":"Soares","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Mota-Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e1lia","family":"Oliva-Teles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Maria","family":"Fortuna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"8464","published-online":{"date-parts":[[2019,8,1]]},"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/11466\/5738","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/11466\/5738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T22:25:11Z","timestamp":1666650311000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/11466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,1]]},"references-count":0,"journal-issue":{"issue":"7-8","published-online":{"date-parts":[[2019,8,1]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.11466","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"value":"1646-0758","type":"electronic"},{"value":"0870-399X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,8,1]]}}}