caa a22 4500 388115157 CHVBK 20180307125404.0 cr unu---uuuuu 161130e199909 xx s 000 0 eng 10.1017/S1047951100005461 doi S1047951100005461 pii (NATIONALLICENCE)cambridge-10.1017/S1047951100005461 Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion [Elektronische Daten] A 6-day-old male with interruption of the aortic arch at the isthmus (type A) had the typical phenotype of DiGeorge syndrome. There was also a doubly committed juxta-arterial ventricular septal defect and an unobstructed left ventricular outflow tract. Hypoplasia of the thymus was confirmed during a modified Blalock-Park operation. He had persistent hypocalcemia, and was susceptible to infection. He was subsequently revealed by the use of fluorescence in situ hybridization analysis to have 22q11.2 deletion. Interruption of the aortic arch at the isthmus is presumed to reflect abnormal fetal hemodynamics, and is considered a distinct pathogenetic entity from interruption between the left common carotid and subclavian arteries, the latter being the variant more frequently associated with DiGeorge syndrome. In our case, the 22q11.2 deletion likely played a major role in the etiology of the interrupted aortic arch. Copyright © Cambridge University Press 1999 DiGeorge syndrome nationallicence 22q11.2 deletion nationallicence interruption of the aortic arch type A nationallicence Takahashi Kazuhiro Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan Kuwahara Takashi Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan Nagatsu Masayoshi Cardiac Surgery, Gifu Prefecture Hospital, Gifu, Japan Cardiology in the Young Cambridge University Press 9/5(1999-09), 516-518 1047-9511 9:5<516 1999 9 CTY https://doi.org/10.1017/S1047951100005461 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1017/S1047951100005461 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Takahashi Kazuhiro Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan NATIONALLICENCE 700 1- Kuwahara Takashi Division of Pediatric Cardiology; Gifu Prefecture Hospital, Gifu, Japan NATIONALLICENCE 700 1- Nagatsu Masayoshi Cardiac Surgery, Gifu Prefecture Hospital, Gifu, Japan NATIONALLICENCE 773 0- Cardiology in the Young Cambridge University Press 9/5(1999-09), 516-518 1047-9511 9:5<516 1999 9 CTY CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-cambridge