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Partial deletion 9p syndrome in Malaysian children

H B Chew1, M K Thong

  • 1Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. hbchew155@hotmail.com

The Medical Journal of Malaysia
|September 24, 2011
PubMed

Insights

This study details the first Malaysian children diagnosed with partial deletion 9p syndrome, a rare genetic disorder. Early genetic testing like karyotyping is crucial for diagnosing this condition and managing its associated health issues.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Partial deletion 9p syndrome is a rare chromosomal disorder.
  • Early diagnosis is essential for effective management and genetic counseling.

Observation:

  • Two Malaysian children presented with characteristic features of partial deletion 9p syndrome.
  • Clinical manifestations included trigonocephaly, facial anomalies, congenital heart defects, and digital abnormalities.

Findings:

  • Chromosomal analysis confirmed partial deletion at the short arm of chromosome 9 in both patients.
  • One patient exhibited underdeveloped female genitalia and anterior anus; the other had hypocalcaemia and a high arched palate, initially mimicking DiGeorge syndrome.

Implications:

  • This report highlights the importance of karyotyping in diagnosing syndromic craniostenosis with multiple anomalies.
  • Early syndromic diagnosis facilitates prognostic assessment, genetic counseling, and tailored patient management.

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