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Article

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?

American journal of medical genetics. Part A - 1 Sept 2011

Faucz Fabio Rueda, Souza Josiane, Bonalumi Filho Aguinaldo, Sotomaior Vanessa Santos, Frantz Egon, Antoniuk Sergio, Rosenfeld Jill A, Raskin Salmo

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21815264
DOI: 10.1002/ajmg.a.34196

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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