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Translocation (X;1)(p11.2;q21): A subtype of renal adenocarcinomas

โœ Scribed by Aurelia M. Meloni; Avery A. Sandberg; J.Edson Pontes; Robert M. Dobbs Jr.

Book ID
119105590
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
107 KB
Volume
63
Category
Article
ISSN
0165-4608

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Translocation t(X;21)(q13.3; p11.1) in a
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โœ Sugio, Yoshitsugu; Sugio, Yoko; Kuwano, Akira; Miyoshi, Osamu; Yamada, Kohki; Ni ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 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