1q43q44 and 1q44 microdeletion syndromes

Summary The 1q43q44 and 1q44 microdeletion syndromes have shown to be a somewhat recognizable phenotype with various degrees of developmental delay, short stature, characteristic facial features, microcephaly, and various midline defects, of which abnormalities (agenesis/hypogenesis) of the corpus callosum is the most typical. However, the clinical phenotype of these microdeletions is quite variable. To explain such variability, incomplete penetrance, position effects, and

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