title: Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
abstract: We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.
authors: Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
authors: Olaya
authors: O
authors: Villa
authors: Miguel
authors: M
authors: Del Campo
authors: Marta
authors: M
authors: Salido
authors: Blanca
authors: B
authors: Gener
authors: Laura
authors: L
authors: Astier
authors: Jesús
authors: J
authors: Del Valle
authors: Fátima
authors: F
authors: Gallastegui
authors: Luis A
authors: LA
authors: Pérez-Jurado
authors: Francesc
authors: F
authors: Solé
mesh_terms: D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010375:Pedigree; D014314:Trisomy / Q000235:genetics*
chemical_list: D005819:Genetic Markers