Complex genomic rearrangements of the Y chromosome in a premature infant.

Autor: Balow SA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. stephanie.balow@cchmc.org.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. stephanie.balow@cchmc.org., Coyan AG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Smith N; Seton Center, Good Samaritan Hospital, TriHealth Hospital Systems, Cincinnati, OH, USA., Russell BE; Department of Human Genetics, Division of Clinical Genetics, University of California Los Angeles, Los Angeles, CA, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Jazyk: angličtina
Zdroj: Molecular cytogenetics [Mol Cytogenet] 2024 Aug 26; Vol. 17 (1), pp. 19. Date of Electronic Publication: 2024 Aug 26.
DOI: 10.1186/s13039-024-00689-x
Abstrakt: Background: Chromoanagenesis is an umbrella term used to describe catastrophic "all at once" cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a small number of chromosomes/loci, copy number gains in combination with deletions, reconstruction of chromosomal fragments with improper order/orientation, and preserved heterozygosity in copy number neutral regions. Chromoanagesis is frequently described in association with cancer; however, it has also been described in the germline. The clinical features associated with constitutional chromoanagenesis are typically due to copy number changes and/or disruption of genes or regulatory regions.
Case Presentation: We present an 8-year-old male patient with complex rearrangements of the Y chromosome including a ring Y chromosome, a derivative Y;21 chromosome, and a complex rearranged Y chromosome. These chromosomes were characterized by G-banded chromosome analysis, SNP microarray, interphase FISH, and metaphase FISH. The mechanism(s) by which these rearrangements occurred is unclear; however, it is evocative of chromoanagenesis.
Conclusion: This case is a novel example of suspected germline chromoanagenesis leading to large copy number changes that are well-tolerated, possibly because only the sex chromosomes are affected.
(© 2024. The Author(s).)
Databáze: MEDLINE
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