title: A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.
abstract: 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.
authors.affiliation: Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University Children's Hospital, S-751 85 Uppsala, Sweden.
authors.forename: D
authors.initials: D
authors.lastname: Tentler
authors.forename: P
authors.initials: P
authors.lastname: Gustavsson
authors.forename: G
authors.initials: G
authors.lastname: Elinder
authors.forename: O
authors.initials: O
authors.lastname: Eklöf
authors.forename: L
authors.initials: L
authors.lastname: Gordon
authors.forename: A
authors.initials: A
authors.lastname: Mandel
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002888:Chromosomes, Human, Pair 19; D003360:Cosmids; D005199:Fanconi Anemia / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011859:Radiography; D013577:Syndrome