PT  - JOURNAL ARTICLE
AU  - F Giraudeau
AU  - D Aubert
AU  - I Young
AU  - S Horsley
AU  - S Knight
AU  - L Kearney
AU  - G Vergnaud
AU  - J Flint
TI  - Molecular-cytogenetic detection of a deletion of 1p36.3.
AID  - 10.1136/jmg.34.4.314
DP  - 1997 Apr 01
TA  - Journal of Medical Genetics
PG  - 314--317
VI  - 34
IP  - 4
4099  - http://jmg.bmj.com/content/34/4/314.short
4100  - http://jmg.bmj.com/content/34/4/314.full
SO  - J Med Genet1997 Apr 01; 34
AB  - 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.