Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature  

作　　者：Daniela Hainz Marcus Krüger Daniela Reber Karl Mehnert Theresa Brunet Gabriele Lederer Sabine Langer-Freitag Julia Hoefele 

机构地区：[1]Institute of Human Genetics,Klinikum rechts der Isar,School of Medicine,Technical University of Munich,Munich,Germany [2]Department of Neonatology,Schwabing Hospital,School of Medicine,Technical University of Munich,Munich,Germany [3]Genetikum,Genetic Counseling and Diagnostics,Stuttgart,Neu-Ulm,Germany

出　　处：《World Journal of Pediatrics》2021年第4期438-448,共11页世界儿科杂志（英文版）

基　　金：Open Access funding enabled and organized by Projekt DEAL.

摘　　要：Mosaic trisomy 12 is a rare genetic condition with a highly variable phenotype.Clinical features associated with this condition include developmental delay,intellectual disability,dysmorphic facial features,short stature,pigmentary dysplasia,complex congenital heart defects and hypotonia(Table 1).To date,20 patients have been described in which mosaic trisomy 12 was observed in both extraembryonic and neonatal/infant tissues.

关 键 词：MOSAIC FEMALE CLINICAL 

分 类 号：R725.4[医药卫生—儿科]