title: Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
abstract: In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4-year-old boy with Asperger syndrome (AS) a microarray-based comparative genomic hybridization (aCGH), using a 135K-feature whole-genome microarray, and Metaphase FISH analysis, was performed. The sSMC was characterized as being composed of 18.4 Mb from 19p12q13.11. Based on the size and genic content, it is expected that the partial trisomy detected is responsible for the characteristics observed in the patient. In that case it could be an indication of a novel locus associated with AS.
authors.affiliation: Graduate Program in Health Sciences (PPGCS), Center for Biological and Health Sciences (CCBS), Pontificia Universidade Catolica do Parana (PUCPR) Curitiba, PR, Brazil. fabio.faucz@pucpr.br
authors.forename: Fabio Rueda
authors.initials: FR
authors.lastname: Faucz
authors.forename: Josiane
authors.initials: J
authors.lastname: Souza
authors.forename: Aguinaldo
authors.initials: A
authors.lastname: Bonalumi Filho
authors.forename: Vanessa Santos
authors.initials: VS
authors.lastname: Sotomaior
authors.forename: Egon
authors.initials: E
authors.lastname: Frantz
authors.forename: Sergio
authors.initials: S
authors.lastname: Antoniuk
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
mesh_terms: D020817:Asperger Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*
chemical_list: D005819:Genetic Markers