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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
Summary
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.