title: Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
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.
authors.affiliation: Department of Medical Genetics, University Medical Center, Utrecht. m.g.e.m.ausems@dmg.azu.nl
authors.forename: M G E M
authors.initials: MG
authors.lastname: Ausems
authors.forename: J
authors.initials: J
authors.lastname: Schuil
authors.forename: C
authors.initials: C
authors.lastname: Van Raveswaaij-Arts
authors.forename: J M
authors.initials: JM
authors.lastname: De Pater
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics / Q000503:physiopathology; D014795:Visual Pathways / Q000503:physiopathology