Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids
- 1 November 1994
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 46 (5) , 368-371
- https://doi.org/10.1111/j.1399-0004.1994.tb04181.x
Abstract
Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 →pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.Keywords
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