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.
|Number of pages||4|
|Publication status||Published - 1994|
- Chromosome 12p duplication
- Chromosome painting
- Fluorescence in situ hybridization
- Subchromosomal painting
ASJC Scopus subject areas