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First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.
Meins M, Böhm D, Großmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P. Meins M, et al. Among authors: bartels i. Am J Med Genet A. 2004 May 15;127A(1):58-64. doi: 10.1002/ajmg.a.20644. Am J Med Genet A. 2004. PMID: 15103719
First confirmed case with paternal uniparental disomy of chromosome 16.
Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I. Kohlhase J, et al. Among authors: bartels i. Am J Med Genet. 2000 Mar 20;91(3):190-1. doi: 10.1002/(sici)1096-8628(20000320)91:3<190::aid-ajmg6>3.0.co;2-i. Am J Med Genet. 2000. PMID: 10756340
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: bartels i. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362
90 results