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.

Mohammed Almannai; Walaa Althunayyan; Mohammed Alamin; Paula Rendeiro; Suha Tashkandi

doi:10.24911/JBCGenetics/183-1547056081

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Case Report
Online Published: 01 Jan 2019

JBCGenetics. 2019; 2(1): 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.

Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi.

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).

Key words: Tetrasomy, triplication, dysmorphic features

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Pubmed Style

Almannai M, Althunayyan W, Alamin M, Rendeiro P, Tashkandi S. 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.. JBCGenetics. 2019; 2(1): 70-73. doi:10.24911/JBCGenetics/183-1547056081

Web Style

Almannai M, Althunayyan W, Alamin M, Rendeiro P, Tashkandi S. 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/?mno=25413 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1547056081

AMA (American Medical Association) Style

Almannai M, Althunayyan W, Alamin M, Rendeiro P, Tashkandi S. 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.. JBCGenetics. 2019; 2(1): 70-73. doi:10.24911/JBCGenetics/183-1547056081

Vancouver/ICMJE Style

Almannai M, Althunayyan W, Alamin M, Rendeiro P, Tashkandi S. 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.. JBCGenetics. (2019), [cited November 14, 2024]; 2(1): 70-73. doi:10.24911/JBCGenetics/183-1547056081

Harvard Style

Almannai, M., Althunayyan, . W., Alamin, . M., Rendeiro, . P. & Tashkandi, . S. (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.. JBCGenetics, 2 (1), 70-73. doi:10.24911/JBCGenetics/183-1547056081

Turabian Style

Almannai, Mohammed, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, and 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.. Journal of Biochemical and Clinical Genetics, 2 (1), 70-73. doi:10.24911/JBCGenetics/183-1547056081

Chicago Style

Almannai, Mohammed, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, and 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.." Journal of Biochemical and Clinical Genetics 2 (2019), 70-73. doi:10.24911/JBCGenetics/183-1547056081

MLA (The Modern Language Association) Style

Almannai, Mohammed, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, and 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.." Journal of Biochemical and Clinical Genetics 2.1 (2019), 70-73. Print. doi:10.24911/JBCGenetics/183-1547056081

APA (American Psychological Association) Style

Almannai, M., Althunayyan, . W., Alamin, . M., Rendeiro, . P. & Tashkandi, . S. (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.. Journal of Biochemical and Clinical Genetics, 2 (1), 70-73. doi:10.24911/JBCGenetics/183-1547056081

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