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Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11

C A Stevens1, M B Qumsiyeh

  • 1Department of Pediatrics, University of Tennessee, USA.

American Journal of Medical Genetics
|February 13, 1995
PubMed

Insights

This study details a rare de novo balanced translocation in a child with frontonasal dysostosis. This genetic finding may aid in identifying genes responsible for craniofacial malformations.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Frontonasal dysostosis is a rare congenital disorder characterized by craniofacial abnormalities.
  • Genetic factors, particularly chromosomal abnormalities, are implicated in the etiology of frontonasal dysostosis.

Observation:

  • A 4-year-old boy presented with typical frontonasal dysostosis and a complex de novo balanced translocation involving chromosomes 3, 7, and 11.
  • The patient exhibited multiple congenital anomalies including hypertelorism, absent nasal tip, atrial septal defect, micropenis, and structural brain abnormalities.

Findings:

  • Karyotyping revealed a 46,XY,t(7;3)(3;11) translocation with four breakpoints.
  • Fluorescence in situ hybridization confirmed the GTG banding interpretation of the complex chromosomal rearrangement.

Implications:

  • This case highlights the potential role of de novo balanced translocations in the pathogenesis of frontonasal dysostosis.
  • Identifying the specific genes disrupted by this translocation could advance understanding of midline craniofacial development and malformations.

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