We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).
- Authors
Masuno, M; Imaizumi, K; Nishimura, G; Nakamura, M; Saito, I; Akagi, K; Kuroki, Y
- 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.
- Publication
Journal of medical genetics, 1995, Vol 32, Issue 11, p894
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.32.11.894