RT Journal Article
SR Electronic
T1 A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 128
OP 131
DO 10.1136/jmg.37.2.128
VO 37
IS 2
A1 Dmitry Tentler
A1 Peter Gustavsson
A1 Göran Elinder
A1 Ole Eklöf
A1 Laurie Gordon
A1 Ariane Mandel
A1 Niklas Dahl
YR 2000
UL http://jmg.bmj.com/content/37/2/128.abstract
AB 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.