A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
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| Abstract |
De novo triplication together with uniparental disomy (UPD) is a rare genomic rearrangement, and, to our knowledge, co-occurrence has previously only been reported in two individuals. We encountered a patient with a suspected karyotype of 46,XX,del(5)(q33.1q33.3),dup(5)(q31.3q33.3) or (q33.1q35.1). Genetic analysis revealed tetrasomy of 5q33.3-q34 caused by de novo middle inverted triplication and uniparental isodisomy of 5q34-qter. Most clinical features in the patient were observed in previously reported cases of duplication overlapping with 5q33.3-q34, with the exception of hearing loss. The FOXI1 gene, which causes autosomal recessive deafness (OMIM 600791, DFNB4) when mutated, was contained within the uniparental isodisomy region (5q34-qter). However, no mutations were identified following Sanger sequencing of FOXI1. This is the first report of a patient with de novo triplication together with uniparental isodisomy of chromosome 5q. As segmental isodisomy is a post-fertilization error, it is thought to have occurred during mitosis just after fertilization via a U-type exchange, while inverted duplication could have occurred during meiosis or mitosis. This study reaffirms that the single nucleotide polymorphism (SNP) array is a powerful tool to screen for UPD in a single experiment, especially in cases of isodisomy.
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| Authors | Atsushi Fujita, Hiroshi Suzumura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naoki Harada, Naomichi Matsumoto, Noriko Miyake |
| Journal | American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 8 Pg. 1904-9 (Aug 2013) ISSN: 1552-4833 [Electronic] United States |
| PMID | 23824987 (Publication Type: Journal Article) |
| Copyright | Copyright © 2013 Wiley Periodicals, Inc. |
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