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Published on: January 28, 2014
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring
M G E M Ausems1, J Schuil, C Van Raveswaaij-Arts
1Department of Medical Genetics, University Medical Center, Utrecht. m.g.e.m.ausems@dmg.azu.nl
Abstract:
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We report on a girl with a mosaic karyotype containing a supernumerary ring chromosome. Fluorescence in situ hybridization (FISH) studies showed that this marker chromosome was derived from chromosome 12, resulting in partial trisomy 12p13.1-->12q11. The girl showed developmental delay, cerebral visual impairment, obesity and mild dysmorphic features. Her clinical data at 6 months, 3 years, and 6 years of age were compared with the clinical data on other trisomy 12p patients.
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