title: Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata.
abstract: This paper describes a 12-year-old Japanese boy with coarctation of the aorta, renal hypoplasia, Turner/Noonan surface anomalies, and a 46,XY karyotype. Although the patient might represent an exceptional case of Noonan syndrome, the combination of the somatic stigmata appears to be consistent with a mutation of the putative lymphogenic gene(s) for Turner somatic stigmata.
authors.affiliation: Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: Y
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: M
authors.initials: M
authors.lastname: Honda
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D001017:Aortic Coarctation / Q000175:diagnosis / Q000235:genetics*; D002460:Cell Line; D002648:Child; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers