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Case Reports in Genetics
Volume 2012, Article ID 578018, 4 pages
Case Report

Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

1Department of Genetics, Bioscience Institute of Botucatu, São Paulo State University (UNESP), 18618-970 Botucatu, SP, Brazil
2Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo (USP), 14049-900 Ribeirão Preto, SP, Brazil

Received 7 February 2012; Accepted 5 March 2012

Academic Editors: A. Baumer, D. J. Bunyan, and C. López Ginés

Copyright © 2012 Marcelo Razera Baruffi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 de novo 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 de novo 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 de novo 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.