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>Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
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Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
Intellectual disability is a common form of cognitive impairment that affects 1-3% of the worldwide population. Chromosomal imbalances in the form of numerical aneuploidies, microdeletions, microduplications, and sub-telomere rearrangements are a major cause of intellectual disability and multiple congenital anomalies. Many of these imbalances are caused by submicroscopic deletions or duplications not detected by conventional cytogenetic methods. Interstitial deletions of the long arm of chromosome 4 have been reported in a number of individuals with variable clinical phenotypes (Mitchell etal, 1981; Abuelo et al, 1988; Beall et al, 1988; Fagan and Gill, 1989; Nowaczyk et al, 1997; Harada et al, 2002; Velinov et al., 2005; Jacquemont et al, 2006; Dobyns et al, 2008). We report the molecular characterization by array comparative genomic hybridization (aCGH) of a patient with a de-novo deletion involving 4ql3.3q22.1 and compare the extent of the deletion and the associated clinical features with previously reported patients.
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