A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies

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 sit...

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Veröffentlicht in:	American journal of medical genetics. Part A 2006-01, Vol.140A (1), p.88-91
Hauptverfasser:	Yamamoto, Toshiyuki, Ueda, Hideaki, Kawataki, Motoyoshi, Yamanaka, Michiko, Asou, Toshihide, Kondoh, Yuki, Harada, Naoki, Matsumoto, Naomichi, Kurosawa, Kenji
Format:	Artikel
Sprache:	eng
Schlagworte:	17p11.2 Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences Cardiology. Vascular system Cardiopathies: etiologic forms (general aspects and miscellaneous) Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 17 - genetics Classical genetics, quantitative genetics, hybrids Complex syndromes cyanotic congenital heart disease Ductus Arteriosus, Patent - pathology dysplastic kidney Face - abnormalities Female fluorescence in situ hybridization (FISH) Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heart Human Humans In Situ Hybridization, Fluorescence Infant Karyotyping Kidney - abnormalities large interstitial deletion Lung - abnormalities Medical genetics Medical sciences Pulmonary Atresia - pathology Smith–Magenis syndrome Syndrome Tetralogy of Fallot - pathology
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