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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)

โœ Scribed by Ventruto, V. ;Pisciotta, R. ;Renda, S. ;Festa, B. ;Rinaldi, Maria Michela ;Stabile, M. ;Cavaliere, Maria Luigia ;Esposito, M. ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
304 KB
Volume
16
Category
Article
ISSN
0148-7299

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โœ Imaizumi, Kiyoshi; Masuno, Mitsuo; Ishii, Takuma; Kuroki, Yoshikazu; Okuzumi, Na ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 3 views

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and