Author/Editor		Vergult, Sarah; Krgović, Danijela; Loeys, Bart; Lyonnet, Stanislas; Liedén, Agne; Anderlid, Britt-Marie; Sharkey, Freddie; Joss, Shelagh; Mortier, Geert; Menten, Björn
Title		Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
Type		članek
Vol. and No.		Letnik 19, št. [10]
Publication year		2011
Volume		str. 1032-1037
ISSN		1018-4813 - European journal of human genetics : EJHG
Language		eng
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.
Descriptors		Chromosome Deletion Kromosomska delecija Chromosome Disorders Kromosomske motnje Developmental Disabilities Razvojne motnje Hypothyroidism Hipotiroidizem Speech Govor Genetics Pathology Genetika Patologija Genetics Pathology Genetika Patologija Genetics Pathology Genetika Patologija Physiology Fiziologija