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Article

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

American journal of medical genetics. Part A - 1 Mar 2005

Bonati Maria Teresa, Finelli Palma, Giardino Daniela, Gottardi Giulietta, Roberts Wendy, Larizza Lidia

Abstract excerpt

We report on the case of a male child with autistic disorder, postnatal overgrowth, and a minor brain malformation. Karyotyping and fluorescent in situ hybridization (FISH) analysis showed the presence of an extra copy of the distal portion of chromosome 15q (15q25.2-qter) transposed to chromosome 15p leading to 15q25.2-qter pure trisomy. This karyotype-phenotype study further supports the evidence for a specific...

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Source

Identifiers

PMID: 15666303
DOI: 10.1002/ajmg.a.30503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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