𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of 21q-syndrome with half normal SOD-1 activity

✍ Scribed by K. Yoshimitsu; S. Hatano; Y. Kobayashi; Y. Takeoka; M. Hayashidani; K. Ueda; K. Nomura; K. Ohama; T. Usui

Publisher
Springer
Year
1983
Tongue
English
Weight
243 KB
Volume
64
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A case of 21q-syndrome with normal SOD-1
A case of 21q-syndrome with normal SOD-1 activity
✍ Yoshifumi Yamamoto; N. Ogasawara; A. Gotoh; H. Komiya; H. Nakai; Y. Kuroki πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 358 KB

A female infant with del(21)(pter leads to q22.1--2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, ma

A case of atypical myelodysplastic syndr
A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)
✍ Susanne Schnittger; Claudia Schoch; Berthold Streubel; Hans-Fokke Hinrichs; Burk πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 702 KB

A 49-year-old woman patient with atypical myelodysplastic syndrome (MDS) showing a der(3)t(3;12)(q21;p13), and der(12)t(3; 12)(q21;p13)inv(3)(q21q26) as an acquired chromosomal abnormality in the bone marrow is described. The chromosomal breakpoints of the presented complex aberration with combinati