Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

• Published in: American journal of medical genetics. Part A 2008-06, Vol.146A (12), p.1575-1580
• Main Authors: Yamamoto, Toshiyuki, Dowa, Yuri, Ueda, Hideaki, Kawataki, Motoyoshi, Asou, Toshihide, Sasaki, Yuki, Harada, Naoki, Matsumoto, Naomichi, Matsuoka, Rumiko, Kurosawa, Kenji
• Format: Article
• Language: English
• Subjects: Aorta - abnormalities; Biological and medical sciences; chromosome 16; Chromosome Deletion; Chromosomes, Human, Pair 16 - genetics; congenital heart disease; conotruncal heart defect; contiguous gene syndrome; Craniofacial Abnormalities - complications; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - genetics; Failure to Thrive - complications; Failure to Thrive - diagnosis; Failure to Thrive - genetics; Humans; Infant; Karyotyping; Magnetic Resonance Imaging; Male; malformation; Medical genetics; Medical sciences; microdeletion; Psychomotor Disorders - complications; Psychomotor Disorders - diagnosis; Psychomotor Disorders - genetics; Pulmonary Artery - abnormalities; Pulmonary Atresia - complications; Pulmonary Atresia - diagnosis; Pulmonary Atresia - genetics; Tetralogy of Fallot - complications; Tetralogy of Fallot - diagnosis; Tetralogy of Fallot - genetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32204

A newborn male had an interstitial deletion of 16q21–q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region. © 2008 Wiley‐Liss, Inc.