Short report
A microdeletion in 19q13.2 associated with mental retardation,
skeletal malformations, and Diamond-Blackfan anaemia suggests a novel
contiguous gene syndrome
Dmitry Tentlera, Peter Gustavssona, Göran Elinderb, Ole Eklöfc, Laurie Gordond, Ariane Mandela, Niklas Dahla
a Unit of Clinical
Genetics, Department of Genetics and Pathology, Uppsala University
Children's Hospital, S-751 85 Uppsala, Sweden, b Department of Paediatrics, Institution of
Södersjukhuset, Karolinska Institute, Stockholm, Sweden, c Department of Paediatric Radiology,
Karolinska Hospital, Stockholm, Sweden, d Lawrence
Livermore National Laboratory, Livermore, CA, USA
Correspondence to: Dr Dahl
Revised version received 13 September 1999;
Accepted for publication 23
September 1999
Diamond-Blackfan anaemia (DBA) is a constitutional red blood
cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2
and subsequently cloned. Analysis of 19q marker alleles in DNA of
sporadic DBA cases showed de novo microdeletions in three patients also
presenting with mental retardation. We have studied one of these
patients and characterised the deletion by fluorescence in situ
hybridisation (FISH) to extended DNA fibres. The deletion was shown to
be continuous over a 3.2 Mb region and the fibre-FISH analysis showed
both chromosomal breakpoints. In combination, the clinical and
molecular findings suggest a contiguous gene syndrome with a gene locus
for mental retardation and, probably, skeletal malformations included
in the deletion.
Keywords: chromosome 19q13; microdeletion syndrome; fibre-FISH
© 2000 by J Med Genet
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