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 types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Abnormalities, Multiple / genetics*
-
Bone Diseases, Developmental / genetics*
-
Bone Marrow Diseases / genetics*
-
Celiac Disease / genetics
-
Chromosome Aberrations / genetics*
-
Chromosome Disorders
-
Chromosomes, Human, Pair 12 / genetics
-
Chromosomes, Human, Pair 12 / ultrastructure*
-
Chromosomes, Human, Pair 6 / genetics
-
Chromosomes, Human, Pair 6 / ultrastructure*
-
Exocrine Pancreatic Insufficiency / genetics*
-
Failure to Thrive / genetics
-
Female
-
Humans
-
Infant
-
Malabsorption Syndromes / genetics
-
Microtubules / ultrastructure
-
Syndrome
-
Translocation, Genetic*
-
Tubulin / genetics