DIAMOND-BLACKFAN-ANEMIA IN A GIRL WITH A DE-NOVO BALANCED RECIPROCAL X-19 TRANSLOCATION

A 7 year old girl is described with congenital hypoplastic anaemia (Di amond-Blackfan anaemia, DEA) and an apparently balanced reciprocal tra nslocation, 46,XY,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 speci fic cosmids showed that the chromosome 19 breakpoint is located betwee n the RYR1 and the XRCC1 loci spanning a physical region of 5 Mb. Ther e is no family history of DBA and the parents and two healthy sibs hav e normal karyotypes. This is the first report of a balanced translocat ion associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be i nherited as an autosomal trait and our observation may indicate a cand idate gene for the disorder in the 19q13 region.