Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation
Joint Authors
Bicudo da Silva, Rosana Aparecida
Baruffi, Marcelo Razera
Ramos, Ester Silveira
de Souza, Deise Helena
Moretti-Ferreira, Danilo
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-05-17
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Baruffi, Marcelo Razera& de Souza, Deise Helena& Bicudo da Silva, Rosana Aparecida& Ramos, Ester Silveira& Moretti-Ferreira, Danilo. 2012. Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-482166
Modern Language Association (MLA)
Baruffi, Marcelo Razera…[et al.]. Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation. Case Reports in Genetics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-482166
American Medical Association (AMA)
Baruffi, Marcelo Razera& de Souza, Deise Helena& Bicudo da Silva, Rosana Aparecida& Ramos, Ester Silveira& Moretti-Ferreira, Danilo. Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-482166
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-482166