Further evidence that a 100Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

摘要

A recognizable phenotype is associated with submicroscopic chromosome 1q43-q44 deletions (OMIM 612337). The clinical features include intellectual disability, prenatal onset growth retardation, severe progressive microcephaly, hypospadias, corpus callosum abnormalities, cardiac anomalies, gastroesophageal reflux, and a characteristic facies [De Vries et al., 2001]. The phenotype of speech delay, hypotonia, seizures, and variable corpus callosum thickness was further refined to a 440 Kb region within band 1q44 [Caliebe et al., 2010]. Recently, Ballif et al. [2012] used a cohort of 22 patients with the Iq43q44 deletion syndrome region to correlate specific phenotypes to genes and gene clusters.