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

Tomonobu Hasegawa, Tsutomu Ogata, Yukihiro Hasegawa, Masataka Honda, Toshiro Nagai, Yoshimitsu Fukushima, Yutaka Nakahori, Nobutake Matsuo

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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.

Original languageEnglish
Pages (from-to)564-567
Number of pages4
JournalHuman Genetics
Volume97
Issue number5
DOIs
Publication statusPublished - 1996 May

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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