Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10430729" target="_blank" >RIV/00216208:11110/21:10430729 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/21:10430729 RIV/00064165:_____/21:10430729 RIV/00216208:11130/21:10430729
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=oPq5BxBeKN" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=oPq5BxBeKN</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood.2021012781" target="_blank" >10.1182/blood.2021012781</a>

Result language
angličtina
Original language name
Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations
Original language description
GATA2 deficiency is an autosomal dominant disorder predisposing to myeloid neoplasia and immunodeficiency. GATA2-related myelodysplastic syndrome (MDS) may present early in life and is commonly associated with monosomy 7 and trisomy 8 karyotypes. Der(1;7)(q10;p10), henceforth der(1;7), is an unbalanced whole-arm chromosomal translocation resulting in trisomy 1q and deletion 7q (del(7q)). This translocation has been recurrently reported in adults with primary and therapy-related hematopoietic malignancies, while in children it is associated with primary MDS. Previously, we and others reported single cases of GATA2 deficiency that carry der(1;7).
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30205 - Hematology

Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)