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Can I read Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome on EtoBox?
Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome by Heather J. Stalker; Ségolène Aymé; Daniele Delneste; Hélène Scarpelli; Michel Vekemans; Dr. Vazken M. Der Kaloustian is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome about?
We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q1, and the "trisomy 9q syndrome" described by Turleau et al. [1975].
Who reads Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Heather J. Stalker; Ségolène Aymé; Daniele Delneste; Hélène Scarpelli; Michel Vekemans; Dr. Vazken M. Der Kaloustian
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1993
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)