Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis

Abstract Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and to compare the...

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Bibliographic Details
Main Author: Correia-Costa,Gabriela Roldão (author)
Other Authors: Sgardioli,Ilária Cristina (author), Santos,Ana Paula dos (author), Araujo,Tânia Kawasaki de (author), Secolin,Rodrigo (author), Lopes-Cendes,Iscia (author), Gil-da-Silva-Lopes,Vera Lúcia (author), Vieira,Társis Paiva (author)
Format: article
Language:eng
Published: 2022
Subjects:
Runs of homozygosity
chromosomal microarray analysis
identity by descent
uniparental disomy
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100107
Country:Brazil
Oai:oai:scielo:S1415-47572022000100107

Internet

http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000100107

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