A case of de novo i(12p) with 12q whole-arm translocation mosaicism.
We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies.
Marques-de-Faria
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AP
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Brazil.
Hackel
C
C
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D002897:Chromosomes, Human, Pair 7; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007223:Infant; D007527:Isoenzymes; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000032:analysis; D009030:Mosaicism; D014178:Translocation, Genetic
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase