{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T19:54:53Z","timestamp":1792353293413,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and\/or developmental delay. We investigated a patient with a<jats:italic>de novo<\/jats:italic>X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents\/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a<jats:italic>de novo<\/jats:italic>balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with<jats:italic>de novo<\/jats:italic>balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.<\/jats:p>","DOI":"10.1155\/2012\/578018","type":"journal-article","created":{"date-parts":[[2012,5,20]],"date-time":"2012-05-20T07:39:16Z","timestamp":1337499556000},"page":"1-4","source":"Crossref","is-referenced-by-count":4,"title":["Autism Spectrum Disorder in a Girl with a<i>De Novo<\/i>X;19 Balanced Translocation"],"prefix":"10.1155","volume":"2012","author":[{"given":"Marcelo Razera","family":"Baruffi","sequence":"first","affiliation":[{"name":"Department of Genetics, Bioscience Institute of Botucatu, S\u00e3o Paulo State University (UNESP), 18618-970 Botucatu, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deise Helena","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Genetics, Bioscience Institute of Botucatu, S\u00e3o Paulo State University (UNESP), 18618-970 Botucatu, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana Aparecida","family":"Bicudo da Silva","sequence":"additional","affiliation":[{"name":"Department of Genetics, Bioscience Institute of Botucatu, S\u00e3o Paulo State University (UNESP), 18618-970 Botucatu, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester Silveira","family":"Ramos","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo (USP), 14049-900 Ribeir\u00e3o Preto, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9256-7623","authenticated-orcid":true,"given":"Danilo","family":"Moretti-Ferreira","sequence":"additional","affiliation":[{"name":"Department of Genetics, Bioscience Institute of Botucatu, S\u00e3o Paulo State University (UNESP), 18618-970 Botucatu, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"issue":"9","key":"3","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.34.9.779","volume":"34","year":"1997","journal-title":"Journal of Medical Genetics"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100465"},{"issue":"5274","key":"9","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1126\/science.273.5274.494","volume":"273","year":"1996","journal-title":"Science"},{"issue":"2","key":"6","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/ajmg.1320420205","volume":"42","year":"1992","journal-title":"American Journal of Medical Genetics"},{"key":"1","doi-asserted-by":"publisher","DOI":"10.1186\/1746-1596-4-15"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22437"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2009.05.011"},{"issue":"5","key":"5","doi-asserted-by":"crossref","first-page":"e472","DOI":"10.1542\/peds.113.5.e472","volume":"113","year":"2004","journal-title":"Pediatrics"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1038\/sj\/mp\/4001011"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/578018.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/578018.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2012\/578018.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T14:57:27Z","timestamp":1497970647000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2012\/578018\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":9,"alternative-id":["578018","578018"],"URL":"https:\/\/doi.org\/10.1155\/2012\/578018","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}