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Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery

Published online by Cambridge University Press:  01 April 2009

Yali Hu ,
Xiangyu Zhu ,
Yuehua Yang ,
Xuming Mo ,
Min Sheng ,
Jincui Yao  and
Dongjing Wang
Yali Hu
Affiliation:
Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China
Xiangyu Zhu
Affiliation:
Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China
Yuehua Yang
Affiliation:
Nanjing Medical University, 140 Hanzhong Road, Nanjing, Jiangsu, China
Xuming Mo
Affiliation:
Department of Cardiothoracic Surgery, Nanjing Children’s Hospital, Nanjing, Jiangsu, China
Min Sheng
Affiliation:
Nanjing Medical University, 140 Hanzhong Road, Nanjing, Jiangsu, China
Jincui Yao
Affiliation:
Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China
Dongjing Wang*
Affiliation:
Department of Cardiothoracic Surgery, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China
*
Correspondence to: Dongjin Wang, Department of Cardiothoracic Surgery, Nanjing Drum Tower Hospital, 321 Zhongshan Boulevard, Nanjing, Jiangsu 210008, People’s Republic of China. Tel: 025-83105117; Fax: 025-83105117 or 025-83317016; E-mail: [email protected]
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Abstract

Background

22q11.2 microdeletion is the most common microdeletion in the global population. Congenital cardiac disease is the most frequently observed feature of this syndrome. The prognosis of patients with 22q11.2 copy number aberrations varies from those without 22q11.2 deletion or duplication.

Methods

We enrolled 241 patients from Nanjing Drum Tower Hospital and Nanjing Sick Children’s Hospital, 227 being scheduled for cardiac surgery, and 14 cases being fetuses aged from 24 to 36 gestational weeks. We performed karyotypic analysis and multiplex ligation-dependent probe amplification in all cases.

Results

Karyotypic analysis demonstrated 3 cases with trisomy 21, and 1 case with mosaic trisomy 8 [47,XY,+8/46,XY(1:2)]. Multiplex ligation-dependent probe amplification analysis revealed 10 cases (4.15%) with changes in the number of copies within the region of 22q11.2, of which 7 cases were hemizygous interstitial microdeletion from CLTCL1 to LZTR1, 1 case with deletion of the region from CLTCL1 to PCQAP, and 2 cases with 22q11.2 duplication, one of which spanned from ZNF74 to LZTR1, and simultaneously showed trisomy 21 by karyotyping analysis, and the other spanned from HIC2 to TOP3B. The phenotypes of the cardiac lesions included 3 cases of ventricular septal defect, 3 of tetralogy of Fallot, 2 of combined ventricular and atrial septal defects, and 2 with pulmonary arterial stenosis.

Conclusions

Patients with congenitally malformed hearts who are scheduled for cardiac surgery, as well as fetuses with congenital cardiac disease, should routinely undergo karyotypic analysis and examination for 22q11.2 aberrations. Multiplex ligation-dependent probe amplification has been proven to be a cost-effective diagnostic technique for 22q11 deletion syndrome.

Keywords

22q11 deletion syndromeDiGeorge syndromevelocardiofacial syndromecat-eye syndrome
Type
Original Article
Information
Cardiology in the Young , Volume 19 , Issue 2 , April 2009 , pp. 179 - 184
Copyright
Copyright © Cambridge University Press 2009

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