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.
Original language | English |
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Pages (from-to) | 368-371 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 46 |
Issue number | 5 |
Publication status | Published - 1994 |
Keywords
- Chromosome 12p duplication
- Chromosome painting
- Fluorescence in situ hybridization
- Subchromosomal painting
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)