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J Med Genet. 1995 Nov;32(11):894-5.

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

Author information

  • 1Division of Medical Genetics, Kanagawa Children's Medical Centre, Yokohama, Japan.

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.

PMID:
8592336
[PubMed - indexed for MEDLINE]
PMCID:
PMC1051744
Free PMC Article
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