Title of article :
Inherited t(9;22) as the cause of DiGeorge syndrome: a case report
Author/Authors :
Shuib, Salwati Universiti Kebangsaan Malaysia - Faculty of Medicine - Departments of Pathology, Malaysia , Abdul Latif, Zarina Universiti Kebangsaan Malaysia - Faculty of Medicine - Departments of Paediatrics, Malaysia , Zainal Abidin, Nor Zarina Universiti Kebangsaan Malaysia - Faculty of Medicine - Departments of Pathology, Malaysia , Noor Akmal, Sharifah Universiti Kebangsaan Malaysia - Faculty of Medicine - Departments of Pathology, Malaysia , Zakaria, Zubaidah Institute for Medical Research - Division of Haematology, Malaysia
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.
Keywords :
DiGeorge syndrome, deletion 22q11.2, fl uorescence in situ hybridisation (FISH), t(9 , 22)
Journal title :
The Malaysian Journal of Pathology
Journal title :
The Malaysian Journal of Pathology
