Inherited t(9;22) as the cause of DiGeorge syndrome: A case report

Salwati Shuib, Zarina Abdul Latiff, Nor Zarina Zainal Abidin, Sharifah Noor Akmal, Zubaidah Zakaria

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

DiGeorge syndrome is associated with microdeletion of chromosome 22q11.2. Most cases occur sporadically although vertical transmission has been documented. We report a rare case of DiGeorge syndrome in an 8-year-old girl. Blood sample of the patient was cultured and harvested following standard procedure. All of the 20 cells analysed showed a karyotype of 45,XX,-22,t(9;22)(p23;q11.2). Cytogenetic investigation done on the patient's mother revealed that she was the carrier for the translocation. Her karyotype was 46,XX,t(9;22)(p23;q11.2). Fluorescence in situ hybridisation (FISH) analysis using TUPLE1 and N25 (Vysis, USA) probes showed deletion of the 22q11.2 region in the patient, confirming the diagnosis of DiGeorge syndrome. FISH analysis showed no deletion of the region in the mother.

Original languageEnglish
Pages (from-to)133-136
Number of pages4
JournalMalaysian Journal of Pathology
Volume31
Issue number2
Publication statusPublished - Dec 2009

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DiGeorge Syndrome
Fluorescence In Situ Hybridization
Karyotype
Mothers
Cytogenetics
Chromosomes

Keywords

  • Deletion 22q11.2
  • DiGeorge syndrome
  • Fluorescence in situ hybridisation (FISH)
  • t(9;22)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology
  • Histology

Cite this

Inherited t(9;22) as the cause of DiGeorge syndrome : A case report. / Shuib, Salwati; Abdul Latiff, Zarina; Zainal Abidin, Nor Zarina; Akmal, Sharifah Noor; Zakaria, Zubaidah.

In: Malaysian Journal of Pathology, Vol. 31, No. 2, 12.2009, p. 133-136.

Research output: Contribution to journalArticle

Shuib, S, Abdul Latiff, Z, Zainal Abidin, NZ, Akmal, SN & Zakaria, Z 2009, 'Inherited t(9;22) as the cause of DiGeorge syndrome: A case report', Malaysian Journal of Pathology, vol. 31, no. 2, pp. 133-136.
Shuib, Salwati ; Abdul Latiff, Zarina ; Zainal Abidin, Nor Zarina ; Akmal, Sharifah Noor ; Zakaria, Zubaidah. / Inherited t(9;22) as the cause of DiGeorge syndrome : A case report. In: Malaysian Journal of Pathology. 2009 ; Vol. 31, No. 2. pp. 133-136.
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