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9p-Syndrome

J Boby1, S C Karande, K R Lahiri

  • 1Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

Journal of Postgraduate Medicine
|January 1, 1994
PubMed
Summary
This summary is machine-generated.

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A rare genetic disorder, deletion of the short arm of chromosome 9, caused specific facial features and developmental issues in an infant. This chromosomal abnormality requires further investigation for comprehensive understanding.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Infants presenting with unusual facial features and gastrointestinal issues require thorough genetic evaluation.
  • Trigonocephaly, anteverted nostrils, long philtrum, and hypoplastic supraorbital ridges can indicate underlying genetic syndromes.

Observation:

  • The patient presented with loose motions and mild dehydration.
  • Physical examination revealed trigonocephaly, anteverted nostrils, long philtrum, and hypoplastic supraorbital ridges.
  • Radiographic imaging showed sutural separation.

Findings:

  • Karyotyping confirmed a deletion on the short arm of chromosome 9, specifically distal to band p22 (del(9)(p22)).
  • This chromosomal abnormality is associated with a distinct set of dysmorphic features.

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Implications:

  • Highlights the importance of genetic testing in diagnosing complex pediatric cases.
  • Contributes to the understanding of chromosome 9 deletion syndromes and their phenotypic spectrum.
  • Informs genetic counseling and potential management strategies for affected families.