Редактирование: SBDS (раздел)

==Publications==

{{medline-entry
|title=The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19222471
|abstract=An investigation of 22 new patients with Shwachman-Diamond syndrome ([[SDS]]) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific [[SDS]] karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. We conclude that karyotype instability is part of the natural history of [[SDS]] through a specific mutator effect, linked to lacking [[SBDS]] protein, with consequent clonal anomalies of chromosomes 7 and 20 in BM, which may eventually promote MDS/AML with the patients' ageing.
|mesh-terms=* Adolescent
* Adult
* Aging
* Bone Marrow Cells
* Child
* Child, Preschool
* Chromosome Aberrations
* Chromosome Breakage
* Chromosomes, Human, Pair 20
* Chromosomes, Human, Pair 7
* DNA Mutational Analysis
* Disease Progression
* Female
* Follow-Up Studies
* Humans
* In Situ Hybridization, Fluorescence
* Isochromosomes
* Karyotyping
* Leukemia, Myeloid, Acute
* Male
* Myelodysplastic Syndromes
* Proteins
* Young Adult

|full-text-url=https://sci-hub.do/10.1111/j.1365-2141.2009.07611.x
}}