title: Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
abstract: A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakpoint is located between the RYR1 and the XRCC11 loci spanning a physical region of 5 Mb. There is no family history of DBA and the parents and two healthy sibs have normal karyotypes. This is the first report of a balanced translocation associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be inherited as an autosomal trait and our observation may indicate a candidate gene for the disorder in the 19q13 region.
authors.affiliation: Department of Clinical Genetics, University Children's Hospital, Uppsala, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Gustavsson
authors.forename: G
authors.initials: G
authors.lastname: Skeppner
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: T
authors.initials: T
authors.lastname: Berg
authors.forename: L
authors.initials: L
authors.lastname: Gordon
authors.forename: A
authors.initials: A
authors.lastname: Kreuger
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D001803:Blood Transfusion; D002648:Child; D002888:Chromosomes, Human, Pair 19; D005199:Fanconi Anemia / Q000235:genetics* / Q000628:therapy; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D011247:Pregnancy; D014178:Translocation, Genetic; D014960:X Chromosome