Frequent association of 22q11.2 deletion with tetralogy of Fallot

Jun Maeda, Hiroyuki Yamagishi, Rumiko Matsuoka, Jun Ishihara, Mitsuaki Tokumura, Hiroyuki Fukushima, Hideaki Ueda, Etsuro Takahashi, Shigeki Yoshiba, Yoshifumi Kojima

Research output: Contribution to journalArticle

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Abstract

Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q 11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)269-272
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume92
Issue number4
DOIs
Publication statusPublished - 2000 Jun 5

Fingerprint

Tetralogy of Fallot
Pulmonary Atresia
Bronchomalacia
DiGeorge Syndrome
Pulmonary Artery
Pulmonary Valve Stenosis
Patent Ductus Arteriosus
Chromosome Deletion
Down Syndrome
Fluorescence In Situ Hybridization

Keywords

  • 2q11.2 deletion
  • Bronchomalacia
  • Chromosome
  • Major aortico-pulmonary collateral arteries
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Frequent association of 22q11.2 deletion with tetralogy of Fallot. / Maeda, Jun; Yamagishi, Hiroyuki; Matsuoka, Rumiko; Ishihara, Jun; Tokumura, Mitsuaki; Fukushima, Hiroyuki; Ueda, Hideaki; Takahashi, Etsuro; Yoshiba, Shigeki; Kojima, Yoshifumi.

In: American Journal of Medical Genetics, Vol. 92, No. 4, 05.06.2000, p. 269-272.

Research output: Contribution to journalArticle

Maeda, Jun ; Yamagishi, Hiroyuki ; Matsuoka, Rumiko ; Ishihara, Jun ; Tokumura, Mitsuaki ; Fukushima, Hiroyuki ; Ueda, Hideaki ; Takahashi, Etsuro ; Yoshiba, Shigeki ; Kojima, Yoshifumi. / Frequent association of 22q11.2 deletion with tetralogy of Fallot. In: American Journal of Medical Genetics. 2000 ; Vol. 92, No. 4. pp. 269-272.
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AB - Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q 11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients. (C) 2000 Wiley-Liss, Inc.

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