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Hemifacial microsomia and abnormal chromosome 22

E H Hathout1, E Elmendorf, J Bartley

  • 1Department of Pediatrics, Loma Linda University School of Medicine and Children's Hospital, California 92354, USA.

American Journal of Medical Genetics
|March 21, 1998
PubMed
Summary

This case study highlights a partial duplication of chromosome 22 (dup(22q)) associated with growth deficiency and the facioauriculovertebral sequence. Chromosome analysis is valuable for identifying genetic causes of unexplained growth failure.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Growth deficiency can stem from various causes, including genetic factors.
  • The facioauriculovertebral sequence is a complex congenital disorder with diverse manifestations.
  • Identifying the underlying genetic etiology is crucial for understanding and managing growth failure.

Observation:

  • A patient presented with partial duplication of chromosome 22 (dup(22q)).
  • The patient exhibited significant growth deficiency without identifiable endocrine or systemic causes.
  • Associated features included hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss, consistent with the facioauriculovertebral sequence.

Findings:

  • The partial dup(22q) was identified as a potential contributor to the patient's growth deficiency and congenital anomalies.

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  • No other endocrine or systemic cause for the growth deficiency was found.
  • This case presents a previously unreported association between partial dup(22q) and the facioauriculovertebral sequence.

    • Implications:

    • Chromosome analysis is a vital diagnostic tool for investigating syndrome-associated growth failure.
    • This finding expands the known phenotypic spectrum associated with partial dup(22q).
    • Further research into dup(22q) may reveal more about its role in developmental processes and congenital abnormalities.