Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion

Authors

  • Mariam M. Al Eissa
  • Raniah S. Alotibi king Saud bin Abdulaziz university for health sciences
  • Amerh S. Alqahtani
  • Marwh G. Aldriwesh
  • Hanan Alismail
  • Nouf Y. Asiri
  • Yara M. Alabdulkareem

Keywords:

1p36 deletion syndrome, 2p25.3 duplication, case report, chromosomal rearrangement, chromosome, unbalanced translocation

Abstract

Chromosomal structural variations (S.Vs.) are associated with various phenotypes. This occurs during DNA replication and disturbs genes within the S.V. region, contributing to specific phenotypes. In this case report, the patient was diagnosed with neurodevelopmental delay (NDD), which was further investigated using array comparative genomic hybridization (CGH), which revealed that two S.V. strains are pathogenic to chromosome 1 and are associated with 1p36 microdeletion. The other was a microduplication in 2p35.3, identified as a variant of unknown significance. The patient’s phenotype matched that of 1p36 deletion syndrome. Two terminal rearrangements could result from the derivative of an unbalanced translocation between the short arms of chromosomes one and two.

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Published

2024-07-01

How to Cite

Al Eissa, M. M., Alotibi, R. S., Alqahtani, A. S., Aldriwesh, M. G., Alismail, H., Asiri, N. Y., & Alabdulkareem, Y. M. (2024). Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion. International Journal of Health Sciences, 18(4), 70–75. Retrieved from https://pub.qu.edu.sa/index.php/journal/article/view/8564

Issue

Vol. 18 No. 4 (2024): Jul-Aug

Section

Case report/case series

License

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