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Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited
Tatiana Mozer Joaquim1,2, Scott David Roy3, Clarissa Gondim Picanço de Albuquerque1,4
1Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Cytogenetic and Genome Research
|July 23, 2023
Summary
This study details a complex X chromosome rearrangement in a male patient, identifying an intrachromosomal insertion causing developmental and intellectual disabilities. The findings link duplicated X chromosome genes to the patient's unique phenotype.
Area of Science:
- Genetics
- Human Genetics
- Genomic Rearrangements
Background:
- Intrachromosomal insertions are complex structural rearrangements.
- Classical cytogenetic methods face challenges in interpreting these rearrangements.
Observation:
- A male patient presented with developmental delay, intellectual disability, behavioral disorder, and dysmorphic facial features.
- The patient carried a recombinant X chromosome inherited via maternal intrachromosomal insertion.
Findings:
- Advanced cytogenetic studies identified a recombinant X chromosome.
- This involved a 13.05 Mb interstitial duplication of Xp22.33-Xp22.13, inserted at Xq26.1.
- The duplicated region contains 99 genes, some linked to the patient's clinical presentation.
Implications:
- The identified genetic abnormality provides insight into complex chromosomal rearrangements.
- The combined effects of duplicated Xp genes may explain the patient's phenotype.
- This case highlights the importance of advanced molecular cytogenetics for diagnosing rare genetic disorders.
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