title: Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).
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.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Centre, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: I
authors.initials: I
authors.lastname: Saito
authors.forename: K
authors.initials: K
authors.lastname: Akagi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001855:Bone Marrow Diseases / Q000235:genetics*; D002446:Celiac Disease / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics / Q000648:ultrastructure*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics; D008870:Microtubules / Q000648:ultrastructure; D013577:Syndrome; D014178:Translocation, Genetic; D014404:Tubulin / Q000235:genetics
chemical_list: D014404:Tubulin