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Upper airway malformation associated with partial trisomy 11q

Hui-quan Zhao1, Alan F Rope, Howard M Saal

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

American Journal of Medical Genetics. Part A
|July 3, 2003
PubMed

Insights

Trisomy 11q, a genetic condition, causes developmental delays and distinct facial features. A newly identified issue in some patients is upper airway obstruction due to an abnormal epiglottis, possibly linked to the 11q21-23.2 region.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Trisomy 11q is a chromosomal abnormality linked to a spectrum of congenital anomalies.
  • Commonly observed features include intellectual disability, growth retardation, hypotonia, characteristic facial dysmorphia, cardiac defects, and limb malformations.

Observation:

  • This study presents four cases of partial trisomy 11q, distinct from the typical 11/22 translocation.
  • A novel observation in three of these patients was upper airway obstruction.
  • This obstruction was attributed to a malformed epiglottis.

Findings:

  • The recurrent themes in trisomy 11q patients were confirmed.
  • Upper airway obstruction due to epiglottic malformation is a previously unreported finding in trisomy 11q.
  • The critical chromosomal region implicated in this specific malformation is 11q21-23.2.

Implications:

  • This finding expands the known phenotype of trisomy 11q.
  • It highlights the importance of evaluating airway function in affected individuals.
  • Further research into the 11q21-23.2 region may elucidate the genetic basis of epiglottic development.

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