{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T18:11:59Z","timestamp":1788977519324,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality.<jats:italic>Objective<\/jats:italic>. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found.<jats:italic>Case Report<\/jats:italic>. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30].<jats:italic>Conclusion<\/jats:italic>. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi>z<\/mml:mi><\/mml:mrow><\/mml:math>score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.<\/jats:p>","DOI":"10.1155\/2016\/8760504","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T17:30:49Z","timestamp":1473355849000},"page":"1-3","source":"Crossref","is-referenced-by-count":6,"title":["Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality"],"prefix":"10.1155","volume":"2016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0466-8548","authenticated-orcid":true,"given":"Gioconda","family":"Manassero-Morales","sequence":"first","affiliation":[{"name":"Genetics Division, Instituto Nacional de Salud del Ni\u00f1o, San Borja, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisse","family":"Alvarez-Manassero","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Merino-Luna","sequence":"additional","affiliation":[{"name":"School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.242"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120460048012"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.3343\/kjlm.2010.30.2.195"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.10.807"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/s0003-3995(01)01074-7"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.2.148"},{"issue":"2","key":"7","first-page":"108","volume":"78","year":"1995","journal-title":"Journal of the Medical Association of Thailand"},{"issue":"4","key":"8","first-page":"393","volume":"16","year":"2005","journal-title":"Genetic Counseling"},{"issue":"6","key":"9","first-page":"644","volume":"79","year":"1975","journal-title":"American Journal of Mental Deficiency"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.12.962"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4123"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/8760504.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/8760504.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/8760504.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T17:30:49Z","timestamp":1473355849000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/cripe\/2016\/8760504\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":11,"alternative-id":["8760504","8760504"],"URL":"https:\/\/doi.org\/10.1155\/2016\/8760504","relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}