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Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Upadhyai P, et al. Clin Dysmorphol. 2020 Jul;29(3):127-131. doi: 10.1097/MCD.0000000000000327. Clin Dysmorphol. 2020. PMID: 32459673 Free PMC article. Review.
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. ...Here, we report on two siblings with substantial intrafamilial phenotypic variability …
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic faci …
Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
Yoon J, Mao Y. Yoon J, et al. Int J Mol Sci. 2021 May 28;22(11):5811. doi: 10.3390/ijms22115811. Int J Mol Sci. 2021. PMID: 34071723 Free PMC article. Review.
Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. ...We discuss the clinical data …
Increased CNV burden has been found to be critically involved in NDs compared with controls in clinical studies. The 1q21.1 CN …
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C. Albers CA, et al. Curr Opin Genet Dev. 2013 Jun;23(3):316-23. doi: 10.1016/j.gde.2013.02.015. Epub 2013 Apr 17. Curr Opin Genet Dev. 2013. PMID: 23602329 Free article. Review.
Rare proximal microdeletions of 1q21.1 are found in the majority of patients but are also found in unaffected parents. ...This finding provides new insight into the complex inheritance pattern and new clues to the molecular mechanisms underlying TAR syndrome. …
Rare proximal microdeletions of 1q21.1 are found in the majority of patients but are also found in unaffected parents. ...This …