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 |
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| Authors: | Tomonobu Hasegawa Tsutomu Ogata Yukihiro Hasegawa Masataka Honda Toshiro Nagai Yoshimitsu Fukushima Yutaka Nakahori Nobutake Matsuo |
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| Institution: | (1) Division of Endocrinology and Metabolism, Tokyo Metropolian Kiyose Children’s Hospital, 1-3-1 Umezono, Kiyose-shi, Tokyo 204, Japan, JP;(2) Division of Nephrology, Tokyo Metropolian Kiyose Children’s Hospital, 1-3-1 Umezono, Kiyose-shi, Tokyo 204, Japan, JP;(3) Division of Neurology, Tokyo Metropolian Kiyose Children’s Hospital, 1-3-1 Umezono, Kiyose-shi, Tokyo 204, Japan, JP;(4) Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, Japan; Fax: +81-3-5379 1978, JP;(5) Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto-shi, Nagano 390, Japan, JP;(6) Department of Human Genetics, Tokyo University, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan, JP |
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| 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.
Received: 24 June 1995 / Revised: 28 September 1995 |
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