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Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1
Author(s) -
Yamamoto Toshiyuki,
Dowa Yuri,
Ueda Hideaki,
Kawataki Motoyoshi,
Asou Toshihide,
Sasaki Yuki,
Harada Naoki,
Matsumoto Naomichi,
Matsuoka Rumiko,
Kurosawa Kenji
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32204
Subject(s) - tetralogy of fallot , pulmonary atresia , medicine , cardiology , craniofacial , heart disease , pulmonary artery , psychiatry
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.