A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was no...

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Bibliographic Details
Main Authors: Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
Format: Article
Language:English
Published: Sciendo 2018-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
array comparative genomic hybridization (acgh)
g-banding
microdeletion
microduplication
paracentric inversion (pai)
Online Access:https://doi.org/10.2478/bjmg-2018-0016

Internet

https://doi.org/10.2478/bjmg-2018-0016

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