Autism spectrum disorder in a girl with a de novo x;19 balanced translocation


Autoria(s): Baruffi, Marcelo Razera; de Souza, Deise Helena; Bicudo da Silva, Rosana Aparecida; Ramos, Ester Silveira; Moretti-Ferreira, Danilo
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

07/12/2015

07/12/2015

2012

Resumo

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.

Formato

1-4

Identificador

http://dx.doi.org/10.1155/2012/578018

Case Reports in Genetics, v. 2012, p. 1-4, 2012.

2090-6552

http://hdl.handle.net/11449/130924

10.1155/2012/578018

PMC3447256.pdf

23074688

PMC3447256

Idioma(s)

eng

Publicador

Hindawi Publishing Corporation

Relação

Case Reports in Genetics

Direitos

openAccess

Tipo

info:eu-repo/semantics/article