ArticleEuropean journal of human genetics : EJHG2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.Clinical genetics · 2023Article
- Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.Frontiers in genetics · 2021Article
- 'Nasal' speech--hyper or hypo?European journal of human genetics : EJHG · 2012Article
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Abstract
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ∼2.5 Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases.
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