Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference14 articles.
1. Blyth M, Maloney V, Beal S, Collinson M, Huang S, et al: Pallister-Killian syndrome: a study of 22 British patients. J Med Genet 52:454-464 (2015).
2. Choo S, Teo SH, Tan M, Yong MH, Ho LY: Tissue-limited mosaicism in Pallister-Killian syndrome - a case in point. J Perinatol 22:420-423 (2002).
3. Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, et al: Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian Syndrome. Am J Med Genet A 158A:3046-3053 (2012).
4. Costa LS, Zandona-Teixeira AC, Montenegro MM, Dias AT, Dutra RL, et al: Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. Mol Cytogenet 8:43 (2015).
5. Hunter AG, Clifford B, Cox DM: The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian Syndrome. Clin Genet 28:47-53 (1985).
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