Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p^,**

Abstract excerpt

Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific phenotypic abnormalities well described in the literature. Here, we report on the unusual case of a partial tetrasomy 12p found in an affected patient and in a mosaic constellation in the patient's mother, who showed no phenotypic abnormality. The index patient was a 16-year-old boy with clinical features similar to the "trisomy 12p...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomal and Genetic Variations
• Share to Genomic variations and chromosomal abnormalities
• Share to Tumors and Oncological Cases