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Hum Genet. 1990 Oct;85(6):617-22.

Distal trisomy 14q. II. Molecular study of the 14q32 locus in two cases of chromosome 14 rearrangements with partial duplication.

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Laboratoire d'Immunogénétique Moléculaire, URA CNRS 1191, Université Montpellier II, Sciences et Techniques du Languedoc, France.


Two cases of chromosome 14 rearrangements with partial duplication which occurred de novo were analyzed by Southern blot analysis using IGH, D14S1 and PI probes. In the first case, with a 46,XX,14p+ karyotype, our study confirms that the additional material on chromosome 14p+ results from a duplication of the 14q region containing the IGH, D14S1 and PI loci. In the second case, our study reveals only one 14q32 locus per chromosome 14 indicating that the extra material does not contain the 14q32 region. Our results demonstrate that molecular probes of the 14q32 region are valuable tools for the characterisation of chromosome 14 abnormalities appearing de novo.

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