A case of de novo trisomy 12p syndrome.
We described a case of complete trisomy 12p syndrome (non-mosaic) originating de novo in a first born child to healthy 26 year old nonconsanguineous parents. The 12p syndrome has been confirmed by clinical, cytogenetic and gene dosage studies.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000097:blood / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy
D007770:L-Lactate Dehydrogenase