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Isolated Chromosome 6q27 Terminal Deletion Syndrome

Sabita Bhatta1, Marsha Medows2,3, Yogesh Acharya4

  • 1Pediatrics, Woodhull Medical Center, New York, USA.

Cureus
|June 17, 2020
PubMed

Insights

A rare chromosome 6q27 terminal deletion caused a two-year-old girl's seizures and distinctive facial features. Early identification of this genetic disorder is crucial for intervention.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Changes in chromosome six, specifically the short (p) or long (q) arms, are linked to various genetic disorders.
  • Chromosome 6q27 terminal deletion syndrome is a rare genetic condition with diverse clinical manifestations.

Observation:

  • A two-year-old female presented with sudden generalized tonic-clonic seizures.
  • Clinical examination revealed a syndromic face with frontal bossing, facial asymmetry due to right depressor angularis oris hypoplasia, and joint hypermobility.
  • While chromosomal karyotyping appeared normal, microarray genetic testing identified a 783 kb deletion at the 6q27 terminus.

Findings:

  • The patient was diagnosed with chromosome 6q27 terminal deletion syndrome.
  • The condition was managed with anti-seizure medications.

Implications:

  • Chromosome 6q27 terminal deletion can lead to a spectrum of structural and developmental anomalies.
  • Understanding the phenotypic and clinical features of this syndrome is essential for timely diagnosis and effective intervention.
  • This case highlights the importance of advanced genetic testing beyond standard karyotyping for diagnosing complex genetic disorders.

Keywords:
childchromosome 6chromosome 6q27 terminal deletionchromosome deletioncongenitaldevelopmental delayfacial asymmetryseizuresyndrome

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