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. 1995 Nov;32(11):894–895. doi: 10.1136/jmg.32.11.894

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

M Masuno 1, K Imaizumi 1, G Nishimura 1, M Nakamura 1, I Saito 1, K Akagi 1, Y Kuroki 1
PMCID: PMC1051744  PMID: 8592336

Abstract

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 has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

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Selected References

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