Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).
case_report · Level V
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- Record sourced from PubMed, PMID 8592336.
- Also identified by PMC identifier 1051744.
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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.
Medical subject headings
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Bone Marrow Diseases
- Chromosome Aberrations
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 6
- Exocrine Pancreatic Insufficiency
- Translocation, Genetic