Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 70 - 73 | DOI: 10.24911/JBCGenetics/183-1547056081
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.
Authors: Mohammed Almannai , Walaa Althunayyan , Mohammed Alamin , Paula Rendeiro , Suha Tashkandi
Article Info
Authors
Mohammed Almannai
Department of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Walaa Althunayyan
Department of General Pediatrics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Mohammed Alamin
Department of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Paula Rendeiro
Cytogenetics Laboratory, CGC genetics. Porto, Portugal
Suha Tashkandi
Cytogenetics Laboratory, Pathology and Clinical Laboratory Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
Publication History
Received: November 22, 2018
Revised: February 24, 2019
Accepted: December 11, 2018
Published: January 01, 2019
Abstract
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 describe an infant with complex chromosomal rearrangement involving the long arm of chromosome 11 with concomitant triplication, duplication, and segmental area of absence of heterozygosity (AOH). Case Presentation: We report an infant who was presented with dysmorphic features, severe failure to thrive, developmental delay, dysgenesis of the corpus callosum, and intestinal obstruction. The aCGHshowed 19,930 megabases (Mb) triplication at 11q13.3q14.3, 346 kilobases(Kb) duplication at 11q14.3 and an area of AOH at 11q14.3-qter. Conclusion The occurrence of triplication along with AOH (most likely as a result of segmental uniparental isodisomy) is a rare, complex genomic rearrangement. It is suggested that these complex genomic rearrangements coupled with segmental uniparental isodisomy arise as a result of one-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR).
Keywords: Tetrasomy, triplication, dysmorphic features
Pubmed Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. 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.. JBC Genetics. 2019; 01 (January 2019): 70-73. doi:10.24911/JBCGenetics/183-1547056081
Web Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. 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.. https://www.jbcgenetics.com/index.php/articles/2172 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1547056081
AMA (American Medical Association) Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. 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.. JBC Genetics. 2019; 01 (January 2019): 70-73. doi:10.24911/JBCGenetics/183-1547056081
Vancouver/ICMJE Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. 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.. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 70-73. doi:10.24911/JBCGenetics/183-1547056081
Harvard Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi (2019) 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.. JBC Genetics, 01 (January 2019): 70-73. doi:10.24911/JBCGenetics/183-1547056081
Chicago Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. "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.." 01 (2019), 70-73. doi:10.24911/JBCGenetics/183-1547056081
MLA (The Modern Language Association) Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi. "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.." 01.January 2019 (2019), 70-73. Print. doi:10.24911/JBCGenetics/183-1547056081
APA (American Psychological Association) Style
Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi (2019) 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.. , 01 (January 2019), 70-73. doi:10.24911/JBCGenetics/183-1547056081