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Article

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

European journal of medical genetics - 1 Jul 2014

Fanizza Isabella, Bertuzzo Sara, Beri Silvana, Scalera Elisabetta, Massagli Angelo, Sali Maria Enrica, Giorda Roberto, Bonaglia Maria Clara

Abstract excerpt

Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems. Here we report a de novo 2.3 Mb interstitial 12p13.33-p13.32 deletion in a 5 year-old child with mild ID, speech delay, microcephaly, muscular hypotonia, and...

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Source

Identifiers

PMID: 24780630
DOI: 10.1016/j.ejmg.2014.04.009

Genes

PARP11
TSPAN9

Provenance

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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