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Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. Borg K, et al. Among authors: cheung sw. Am J Med Genet A. 2007 Nov 15;143A(22):2738-43. doi: 10.1002/ajmg.a.32017. Am J Med Genet A. 2007. PMID: 17937435
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Bartnik M, et al. Among authors: cheung sw. Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5. Genet Med. 2011. PMID: 21293276 Free article.
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P. Nowakowska BA, et al. Among authors: cheung sw. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20333642
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Among authors: cheung sw. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article.
528 results