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We report a deletion of 1p36.3 in a child with microcephaly, mental retardation, broad forehead, deep set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. The phenotype is consistent with that described for partial monosomy for 1p36.3. Reverse chromosome painting and microsatellite and Southern blot analyses were used to map the extent of the deletion. Fluorescence in situ hybridisation (FISH) analysis using probes from every telomere indicates that the rearrangement is likely to be a chromosomal truncation or rearrangement involving subtelomeric repetitive DNA. The deletion was identified by screening a sample of children and adults with idiopathic mental retardation. In conjunction with previous work on this sample, we estimate that 7.4% of the group have subtelomeric rearrangements.

Type

Journal article

Journal

J Med Genet

Publication Date

04/1997

Volume

34

Pages

314 - 317

Keywords

Adolescent, Blotting, Southern, Chromosome Aberrations, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 1, Gene Deletion, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Microcephaly, Monosomy, Phenotype, Telomere