𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)

✍ Scribed by Susanne Schnittger; Claudia Schoch; Berthold Streubel; Hans-Fokke Hinrichs; Burkhardt Otremba; Raza Parwaresch; Christa Fonatsch


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
702 KB
Volume
20
Category
Article
ISSN
1045-2257

No coin nor oath required. For personal study only.

✦ Synopsis


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 combination of the inv(3)(q21q26) and t(3;12)(q21;p13) were defined by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs). The inv(3) is a relatively frequent chromosomal rearrangement in patients with myeloid malignancies and dysmegakaryopoiesis and t(3;12)(q26;p13) has also been reported as a recurrent abnormality in MDS and in blast crisis of chronic myelogenous leukemia (CML). Whereas the t(3;12), inv(3), and t(3;3) are associated with a very poor prognosis, our patient surprisingly had a mild clinical course.


πŸ“œ SIMILAR VOLUMES


Clinical correlations of the 3q21;q26 cy
✍ Tomas Pintado; Maria Teresa Ferro; Carlos San RomΓ‘n; Magdalena Mayayo; Jose G. L πŸ“‚ Article πŸ“… 1985 πŸ› John Wiley and Sons 🌐 English βš– 909 KB

Three patients presenting with acute leukemic disorder and chromosome 3 rearrangement involving bands q21;q26 are reported, and the literature on chromosome 3q abnormalities is reviewed. All reported patients carrying a paracentric 3q inversion or a translocation 3;3 with breakpoints in q21;q26 had

PRENATAL AND POSTNATAL INVESTIGATION OF
✍ S. L. VAN ZELDEREN-BHOLA; E. J. BRESLAU-SIDERIUS; G. C. BEVERSTOCK; I. STOLTE-DI πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 415 KB πŸ‘ 3 views

We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in