Autor(es):
Soares, A. ; Soares, G. ; Mota-Freitas, M. ; Oliva-Teles, N. ; Fortuna, A.
Data: 2019
Identificador Persistente: http://hdl.handle.net/10400.16/2352
Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Assunto(s): Intellectual Disability/genetics; Subtelomeric Rearrangements Gene Rearrangement/genetics; Telomere/genetics; Deficiência Intelectual/genética; Telómero/genética; Telómero/genética; Photography; Plagiocephaly; Telomere; Young Adult; Gene Rearrangement; Parents
Descrição
Intellectual disability affects 2% - 3% of the general population, with a chromosomal abnormality being found in 4% - 28% of these patients and a cryptic subtelomeric abnormality in 3% - 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.
