Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1.
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.
Yamamoto
Toshiyuki
T
International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan. yamamoto@imcir.twmu.ac.jp
Dowa
Yuri
Y
Ueda
Hideaki
H
Kawataki
Motoyoshi
M
Asou
Toshihide
T
Sasaki
Yuki
Y
Harada
Naoki
N
Matsumoto
Naomichi
N
Matsuoka
Rumiko
R
Kurosawa
Kenji
K
D001011:Aorta / Q000002:abnormalities*; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005183:Failure to Thrive / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D011651:Pulmonary Artery / Q000002:abnormalities*; D018633:Pulmonary Atresia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000150:complications / Q000175:diagnosis / Q000235:genetics*