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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.

Kourtney Santucci1, Kristina E Malik1, Katie Angione1

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Chromosome 8p rearrangements cause neurodevelopmental challenges, epilepsy, and malformations. This study describes 24 patients, detailing their specific chromosomal changes and proposing care guidelines for Chromosome 8p Syndromes.

Keywords:
chromosomeshumanneurodevelopmental disorderspair 8practice guidelinespsychometrics

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Clinical Genetics

Background:

  • Rearrangements of Chromosome 8p (8p Syndromes) are associated with a range of neurodevelopmental challenges.
  • These include epilepsy, structural brain and cardiac malformations, and developmental delays.
  • Common rearrangements include inverted-duplication deletion, but other deletions, duplications, and mosaic ring changes also lead to similar phenotypes.

Purpose of the Study:

  • To further describe the phenotype and functional characteristics of patients with Chromosome 8p rearrangements.
  • To share neuro-psychometric data from affected individuals.
  • To propose surveillance care guidelines for patients and their medical providers.

Main Methods:

  • Clinical observation and data collection from 24 patients.
  • Analysis of specific chromosomal rearrangements in 8p.
  • Assessment of neuro-psychometric values.

Main Results:

  • Detailed phenotypic and functional descriptions based on specific chromosomal rearrangements.
  • Presentation of neuro-psychometric values for the patient cohort.
  • Identification of common health challenges associated with 8p alterations.

Conclusions:

  • Chromosome 8p rearrangements present a spectrum of neurodevelopmental and physical health challenges.
  • Specific chromosomal changes influence the phenotype.
  • Evidence-based surveillance and care guidelines are proposed for managing Chromosome 8p Syndromes.