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pro vyhledávání: '"Sander Pajusalu"'
Publikováno v:
Molecular Syndromology. 9:205-213
Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages
Autor:
Piret Ilisson, Vallo Tillmann, Katrin Õunap, Tiina Kahre, Sander Pajusalu, Tiia Reimand, Maria Yakoreva, Olga Žilina
Publikováno v:
Molecular syndromology. 9(4)
Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of c