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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Faucz, Fabio Rueda Souza, Josiane Bonalumi Filho, Aguinaldo Sotomaior, Vanessa Santos Frantz, Egon Antoniuk, Sergio Rosenfeld, Jill A. Raskin, Salmo |
| Description | Country affiliation: Brazil Author Affiliation: Faucz FR ( 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) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 9 |
| Volume Number | 155A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2011-09-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Asperger Syndrome Genetics Chromosomes, Human, Pair 19 Trisomy Child, Preschool Chromosome Aberrations Comparative Genomic Hybridization Genetic Markers Humans In Situ Hybridization, Fluorescence Karyotyping Male Mosaicism Oligonucleotide Array Sequence Analysis Phenotype Case Reports Journal Article |
| Content Type | Text |
| Resource Type | Article Case study |
| Subject | Genetics Genetics (clinical) |
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