Publications by authors named "Malek Bouassida"
Background: Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy-number-variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements. Optical genome mapping (OGM) is an emerging cytogenomic tool with proved ability to identify the full spectrum of cytogenetic aberrations.
Methods: Here, we report on the use of OGM in a prenatal diagnosis setting.
Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in several features of DS.
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- Microduplications of the MYT1L gene are linked mainly to isolated schizophrenia, but detailed phenotypic characteristics are not well-defined due to limited reports.
- The study involved 16 new patients with 2p25.3 microduplications and reviewed 27 existing cases, revealing a wide range of clinical features including developmental delays, autism, intellectual disabilities, and schizophrenia.
- Findings indicate that MYT1L microduplications can vary significantly in expression and may be influenced by unknown genetic and environmental factors, helping clinicians with assessment and management.