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Cowden’s disease with a defined genetic alteration—Chromosomal duplication at 15q11–q13

✍ Scribed by Takehisa Suzuki; Masao Ichinose; Yasuo Matsubara; Naohisa Yahagi; Kiyosi Kurokawa; Hiroshi Fukamachi; Kazumasa Miki

Book ID
105662315
Publisher
Springer Japan
Year
1997
Tongue
English
Weight
1016 KB
Volume
32
Category
Article
ISSN
0944-1174

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✍ Heleneörstavik, Karen ;Tangsrud, Svein Erik ;Kiil, Ragnhild ;Hansteen, Inger-Lis 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 2 views

We report on a 12-year-old boy and his 7-yearold sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed a n increasing appetite. Both sibs have almondshaped eyes, triangular mouth, hypogonadism, retarded growth, and mental retardation.