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Translocation (X;1)(p11.2;q21) in a Papillary Renal Cell Carcinoma in a 14-Year-Old Girl

✍ Scribed by Iwona Karda∂; Andrzej Denis; Ma≥gorzata BabiÒska; Jacek Gronwald; Jacek Podolski; Stanis≥aw Zaj±czek; Andrzej Kram; Jan LubiÒski; Janusz Limon

Book ID
114136334
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
157 KB
Volume
101
Category
Article
ISSN
0165-4608

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Translocation t(X;21)(q13.3; p11.1) in a
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease
✍ Sugio, Yoshitsugu; Sugio, Yoko; Kuwano, Akira; Miyoshi, Osamu; Yamada, Kohki; Ni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi