Molecular-cytogenetic detection of a deletion of 1p36.3.

Abstract : 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.
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Journal of Medical Genetics, BMJ Publishing Group, 1997, 34 (4), pp.314-7
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Soumis le : samedi 6 juin 2015 - 16:09:17
Dernière modification le : jeudi 11 janvier 2018 - 06:19:24

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F Giraudeau, D Aubert, I Young, S Horsley, S Knight, et al.. Molecular-cytogenetic detection of a deletion of 1p36.3.. Journal of Medical Genetics, BMJ Publishing Group, 1997, 34 (4), pp.314-7. 〈hal-01160642〉

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