TY - JOUR
T1 - A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies
AU - Yamamoto, Toshiyuki
AU - Ueda, Hideaki
AU - Kawataki, Motoyoshi
AU - Yamanaka, Michiko
AU - Asou, Toshihide
AU - Kondoh, Yuki
AU - Harada, Naoki
AU - Matsumoto, Naomichi
AU - Kurosawa, Kenji
PY - 2006/1/1
Y1 - 2006/1/1
N2 - A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as flurorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.
AB - A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as flurorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.
KW - 17p11.2
KW - Cyanotic congenital heart disease
KW - Dysplastic kidney
KW - Fluorescence in situ hybridization (FISH)
KW - Large interstitial deletion
KW - Smith-Magenis syndrome
UR - http://www.scopus.com/inward/record.url?scp=30144440203&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=30144440203&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31055
DO - 10.1002/ajmg.a.31055
M3 - Article
C2 - 16333830
AN - SCOPUS:30144440203
VL - 140 A
SP - 88
EP - 91
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -