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

Introduction: 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 othe...

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Bibliographic Details
Main Authors: Ana Rita Soares, Gabriela Soares, Manuela Mota-Freitas, Natália Oliva-Teles, Ana Maria Fortuna
Format: Article
Language:English
Published: Ordem dos Médicos 2019-08-01
Series:Acta Médica Portuguesa
Subjects:
Online Access:https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466