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Chromosome 15q24 microdeletion syndrome

DOI: 10.1186/1750-1172-7-2

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Chromosome 15q24 deletion syndrome15q24 deletion syndrome15q24 microdeletion syndromeChromosome 15q24 microdeletion syndrome is a rare and novel microdeletion syndrome characterized by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. Additional common features include hypotonia, behavioral problems, and recurrent infections (table 1) [1-10]. Although some of the characteristic features may be non-specific, the combination of these findings should prompt the clinician to suspect this diagnosis. Most of the deletions are between 1.7 to 6.1 megabases (Mb) in size, with the smallest region of overlap (SRO) spanning a 1.2 Mb region (Figure 1) [1-10]. Routine high-resolution karyotypes typically do not detect the deletion and all individuals with 15q24 deletion syndrome were diagnosed by using array comparative genomic hybridization (CGH) [1-10].The incidence of 15q24 deletion syndrome is unknown. To date, there have been 19 published reports of individuals with 15q24 deletion syndrome in which clinical information and detailed mapping of the genomic breakpoints are available [1-10]. The first case was reported in 2007 by Sharp et al [1]. Prior to this time, the widespread use of array CGH was limited, therefore the diagnosis may have gone undetected and undiagnosed. With the advent of array CGH, we anticipate that the present number of reported cases represents an underestimate of the actual prevalence of the disorder. A recent study by Cooper et al [11] reviewed 15,767 cases with intellectual disability and various congenital defects referred to their laboratory for array CGH. They identified 15q24 deletion in nine patients with intellectual disability, for an incidence of approximately 1 in 1751 in this population. This would make it approximately 1/10th as frequent as 22q11.2 deletion syndrome which was identified in 96 cases with intellectual disability (~1 in 164). Given these es


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