Deletion 22q11 in patients with interrupted aortic arch

被引：30

作者：

Marino, B

Digilio, MC

Persiani, M

Di Donto, R

Toscano, A

Giannotti, A

Dallapiccola, B

机构：

[1] Bambino Gesu Hosp, Dept Pediat Cardiol, I-00165 Rome, Italy

[2] Bambino Gesu Hosp, Dept Cardiac Surg, I-00165 Rome, Italy

[3] Bambino Gesu Hosp, Dept Med Genet, I-00165 Rome, Italy

[4] Tor Vergata Univ, Rome, Italy

来源：

AMERICAN JOURNAL OF CARDIOLOGY | 1999年 / 84卷 / 03期

关键词：

D O I：

10.1016/S0002-9149(99)00297-0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In our series of 27 children with various types of interruption of the aortic arch (IAA), deletion 22q11 is prevalent inpatients with simple IAA type B, and is absent in patients with IAA type A and in those with associated additional major cardiac defects. Anomalies of the infundibular septum should be considered a characteristic aspect of children with IAA and deletion 22q11.

引用

收藏

页码：360 / +

页数：3

相关论文

共 22 条

[1]

AMATI F, 1995, HUM GENET, V95, P479

[2] INTERRUPTION OF THE AORTIC-ARCH WITH AORTI-COPULMONARY SEPTAL-DEFECT - AN ANATOMIC REVIEW [J].

BRAUNLIN, E ;

PEOPLES, WM ;

FREEDOM, RM ;

FYLER, DC ;

GOLDBLATT, A ;

EDWARDS, JE .

PEDIATRIC CARDIOLOGY, 1982, 3 (04) :329-335

[3] CONGENITAL ABSENCE OF THE AORTIC ARCH [J].

CELORIA, GC ;

PATTON, RB .

AMERICAN HEART JOURNAL, 1959, 58 (03) :407-413

[4] VENTRICULAR SEPTAL-DEFECT IN INTERRUPTION OF AORTIC-ARCH [J].

FREEDOM, RM ;

BAIN, HH ;

ESPLUGAS, E ;

DISCHE, R ;

ROWE, RD .

AMERICAN JOURNAL OF CARDIOLOGY, 1977, 39 (04) :572-582

[5] Frequency of 22q11 deletions in patients with conotruncal defects [J].

Goldmuntz, E ;

Clark, BJ ;

Mitchell, LE ;

Jawad, AF ;

Cuneo, BF ;

Reed, L ;

McDonald-McGinn, D ;

Chien, P ;

Feuer, J ;

Zackai, EH ;

Emanuel, BS ;

Driscoll, DA .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1998, 32 (02) :492-498

[6]

KUTSCHE LM, 1987, AM J CARDIOL, V59, P442

[7] A genetic etiology for interruption of the aortic arch type B [J].

Lewin, MB ;

Lindsay, EA ;

Jurecic, V ;

Gaytia, V ;

Towbin, JA ;

Baldini, A .

AMERICAN JOURNAL OF CARDIOLOGY, 1997, 80 (04) :493-497

[8] ATRIOVENTRICULAR-CANAL IN DOWN-SYNDROME - PREVALENCE OF ASSOCIATED CARDIAC-MALFORMATIONS COMPARED WITH PATIENTS WITHOUT DOWN-SYNDROME [J].

MARINO, B ;

VAIRO, U ;

CORNO, A ;

NAVA, S ;

GUCCIONE, P ;

CALABRO, R ;

MARCELLETTI, C .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1990, 144 (10) :1120-1122

[9] Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot [J].

Marino, B ;

Digilio, MC ;

Grazioli, S ;

Formigari, R ;

Mingarelli, R ;

Giannotti, A ;

Dallapiccola, B .

AMERICAN JOURNAL OF CARDIOLOGY, 1996, 77 (07) :505-508

[10]

MILANESI O, 1982, BRIT HEART J, V48, P566