The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Abstract Background An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome, which is caused in most cases by mutations of th...

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Autores principales: Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamura, Roberto Valli
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
Bone marrow rescue
Chromosome anomalies
Karyotype instability
Shwachman-Diamond syndrome
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/3fc874865da740418e5b38c9fe52d387
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https://doaj.org/article/3fc874865da740418e5b38c9fe52d387

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