ArticleAmerican journal of medical genetics. Part A2011
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
Article in American journal of medical genetics. Part A, 2011. 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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Who cites it
4 citing papers in PubMed.
- Loss of cGMP-dependent protein kinase II alters ultrasonic vocalizations in mice, a model for speech impairment in human microdeletion 4q21 syndrome.Neuroscience letters · 2021Article
- Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity.Human brain mapping · 2018Article
- 4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects.Current genomics · 2018Review
- Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.Molecular cytogenetics · 2015Article
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8 authors.
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Abstract
Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features.
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