ArticleBMC medical genetics2006
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
Article in BMC medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 22 citations in OpenAlex.
- De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.Korean journal of pediatrics · 2015Article
- Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice.Journal of neurochemistry · 2011Article
- Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.PloS one · 2011Article
- Genetic analysis of cortical thickness and fractional anisotropy of water diffusion in the brain.Frontiers in neuroscience · 2011Article
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. Congenital heart disease has been described in three individuals with interstitial deletion involving this region of chromosome 15. CASE PRESENTATION: We report a child with coarctation of the aorta, partial agenesis of corpus callosum and mild to moderate developmental delay, with a de novo deletion of 15q21.1q22.2, detected by the array Comparative Genomic Hybridization (CGH). We utilized chromosome 15-specific microarray-based CGH to define the chromosomal breakpoints in this patient.
conclusionThis is the first description of mapping of an interstitial deletion involving the chromosome 15q21q22 segment using the chromosome 15-specific array-CGH. The report also expands the spectrum of clinical phenotype associated with 15q21q22 deletion.
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