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Article

Cytogenetic and molecular analysis in trisomy 12p

3 May 1996

Abstract excerpt

We studied a male patient with de novo pure trisomy 12p syndrome by molecular analysis and fluorescence in situ hybridization (FISH) with markers from chromosome 12. G-banding studies demonstrated a 46,XY, 22p+ karyotype and the banding pattern and clinical findings suggested that the extra chromosomal material was derived from 12p. Trisomy 12p was confirmed by dosage analysis with chromosome 12p markers and FISH...

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PMID: 8723118
DOI: 10.1002/(sici)1096-8628(19960503)63:1<250::aid-ajmg43>3.0.co;2-k

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