Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance ha...

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Hauptverfasser: Masuno, M, Imaizumi, K, Nishimura, G, Nakamura, M, Saito, I, Akagi, K, Kuroki, Y
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051744/
https://ncbi.nlm.nih.gov/pubmed/8592336
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