Inherited t(9;22) as the cause of DiGeorge syndrome: a case report
- Author:
Salwati Shuib
;
Zarina Abdul Latif
;
Nor Zarina Zainal
;
Sharifah Noor Akmal
;
Zubaidah Zakaria
- Publication Type:Case Reports
- Keywords:
DiGeorge syndrome, deletion 22q11.2, fl uorescence in situ hybridisation (FISH), t(9;
22)
- From:The Malaysian Journal of Pathology
2009;31(2):133-136
- CountryMalaysia
- Language:English
-
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, confi rming the diagnosis of DiGeorge syndrome. FISH analysis showed no
deletion of the region in the mother.
- Full text:W020151203592608912649.pdf
