Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Björn Menten (1) , Sarah Vergult (1) , Danijela Krgovic (1) , Bart L. Loeys (1) , Stanislas Lyonnet (1) , Agne Liedén (1) , Britt Marie Anderlid (1) , Freddie H Sharkey (1) , Shelagh Joss (1) , Geert Mortier (1)

1 Center for Medical Genetics

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. Here 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.

Mots clés: 12q15 microdeletion; nasal speech; hypothyroidism

Björn Menten, Sarah Vergult, Danijela Krgovic, Bart L. Loeys, Stanislas Lyonnet, et al.. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.67⟩. ⟨hal-00633985⟩