A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.

A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.

Background With recent advances in array comparative genomic hybridization (aCGH) methods, several, previously unrecognized pathogenic copy number variants (CNVs) have been recognized. Intrachromosomal triplications are rare and have been reported in a few genomic regions. In this report, we describ...

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Bibliographic Details
Main Authors: Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2019-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
tetrasomy
triplication
dysmorphic features
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=25413

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