TY - JOUR
T1 - Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1
AU - Yamamoto, Toshiyuki
AU - Dowa, Yuri
AU - Ueda, Hideaki
AU - Kawataki, Motoyoshi
AU - Asou, Toshihide
AU - Sasaki, Yuki
AU - Harada, Naoki
AU - Matsumoto, Naomichi
AU - Matsuoka, Rumiko
AU - Kurosawa, Kenji
PY - 2008/6/15
Y1 - 2008/6/15
N2 - 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.
AB - 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.
KW - Chromosome 16
KW - Congenital heart disease
KW - Conotruncal heart defect
KW - Contiguous gene syndrome
KW - Malformation
KW - Microdeletion
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U2 - 10.1002/ajmg.a.32204
DO - 10.1002/ajmg.a.32204
M3 - Article
C2 - 18470894
AN - SCOPUS:44849093629
VL - 146
SP - 1575
EP - 1580
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -