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. 1997 Sep;34(9):779–782. doi: 10.1136/jmg.34.9.779

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

P Gustavsson 1, G Skeppner 1, B Johansson 1, T Berg 1, L Gordon 1, A Kreuger 1, N Dahl 1
PMCID: PMC1051068  PMID: 9321770

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.

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Selected References

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