Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases | Zendy

Ana Rita Soares | Zendy; Gabriela Soares | Zendy; Manuela Mota-Freitas | Zendy; Natália Oliva Teles | Zendy; Ana Maria Fortuna | Zendy

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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Author(s) -

Ana Rita Soares,

Gabriela Soares,

Manuela Mota-Freitas,

Natália Oliva Teles,

Ana Maria Fortuna

Publication year - 2019

Publication title -

acta médica portuguesa

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.316

H-Index - 21

eISSN - 1646-0758

pISSN - 0870-399X

DOI - 10.20344/amp.11466

Subject(s) - subtelomere , proband , omim : online mendelian inheritance in man , gene duplication , karyotype , genetics , comparative genomic hybridization , abnormality , intellectual disability , biology , chromosomal abnormality , chromosomal rearrangement , medicine , chromosome , phenotype , mutation , gene , psychiatry

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.

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