caa a22 4500 388115300 CHVBK 20180307125405.0 cr unu---uuuuu 161130e199909 xx s 000 0 eng 10.1017/S1047951100005357 doi S1047951100005357 pii (NATIONALLICENCE)cambridge-10.1017/S1047951100005357 Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients [Elektronische Daten] Abstract Objectives The purpose of this study was to clarify the clinical characteristics of interruption of the aortic arch associated with chromosome 22q11 deletion. Background About half of patients with interruption of the aortic arch between the left common carotid and the left subclavian artery have deletion of chromosome 22q11. Methods In total, 20 patients with interruption of the aortic arch were studied with fluorescence in situ hybridization using peripheral lymphocytes and a DiGeorge syndrome chromosomal probe (Oncor N25). Cardiovascular anomalies in these patients were diagnosed by cross-sectional echocardiography and angiocardiography, and were confirmed at intracardiac repair. Results Of 13 patients with interruption between the left common carotid artery and the left subclavian artery, seven had the deletion. All 7 also showed thymic hypoplasia and hypocalcemia, together with a nasal voice and peculiar facies. Six of the seven patients had complete deficiency of the muscular outlet septum, with the defect extending to the perimembranous area. Such complete absence of the muscular outlet septum was not present in any of the patients without the deletion. Conclusions Interruption of the aortic arch between the left common carotid and the left subclavian artery, absence of the thymus, and complete absence of the muscular outlet septum, were characteristic in Japanese patients with interruption of the aortic arch associated with deletion of chromosome 22q11. Copyright © Cambridge University Press 1999 Interruption of aortic arch nationallicence chromosome 22q11 deletion nationallicence DiGeorge syndrome nationallicence absent muscular outlet septum nationallicence Momma Kazuo Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan Ando Masahiko Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan Matsuoka Rumiko Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan Joo Kunitaka Department of Pediatric Cardiology, Kyuushuu Koseinenkin Hospital, Kitakyuushuusi, Japan Cardiology in the Young Cambridge University Press 9/5(1999-09), 463-467 1047-9511 9:5<463 1999 9 CTY https://doi.org/10.1017/S1047951100005357 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1017/S1047951100005357 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Momma Kazuo Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan NATIONALLICENCE 700 1- Ando Masahiko Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan NATIONALLICENCE 700 1- Matsuoka Rumiko Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Tokyo, Japan NATIONALLICENCE 700 1- Joo Kunitaka Department of Pediatric Cardiology, Kyuushuu Koseinenkin Hospital, Kitakyuushuusi, Japan NATIONALLICENCE 773 0- Cardiology in the Young Cambridge University Press 9/5(1999-09), 463-467 1047-9511 9:5<463 1999 9 CTY CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-cambridge