UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome

Garza-Mayen, G; Ulloa-Aviles, V; Villarroel, CE; Navarrete-Meneses, P; Lieberman-Hernandez, E; Abreu-Gonzalez, M; Marquez-Quiroz, L; Azotla-Vilchis, C; Cifuentes-Goches, JC; Del Castillo-Ruiz, V; Duran-McKinster, C; Perez-Vera, P; Salas-Labadia, C

Perez-Vera, P; Salas-Labadia, C (corresponding author), Inst Nacl Pediat, Dept Genet Humana, Lab Genet & Canc, Ciudad De Mexico 04530, Mexico.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021; 64 (5):

Abstract

Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD(14)mat), paternal deletion, or epimutation, leading to disturbances in 14......

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