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Goldenhar sequence and mosaic trisomy 22

G Pridjian¹, W L Gill, E Shapira

¹Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 70112, USA.

American Journal of Medical Genetics

|December 4, 1995

Summary

This study reports a case of Goldenhar sequence with hypertelorism and mosaic trisomy 22. Chromosome analysis is recommended for Goldenhar sequence patients, especially those with hypertelorism, to detect aneuploidy.

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Goldenhar sequence, also known as facioauriculo-vertebral dysplasia, is a rare congenital disorder.
Aneuploidy, such as trisomy 22, involves an abnormal number of chromosomes.
Epibulbar dermoids are benign tumors on the surface of the eye.