Disease: Congenital malformation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 GeneticVariation disease BEFREE We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. 31786569 2019
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. 29523172 2018
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE A selection bias for performing array-CGH in cases with multiple congenital malformations may have led to a high yield of CNVs. 28938747 2017
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability. 26909975 2016
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies. 25016475 2014
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Based on our experiences, array-CGH is recommended as the first-step analysis in the genetic evaluation of patients with DD and/or MCA. 20486943 2011
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). 19878743 2010
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 GeneticVariation disease BEFREE Using array CGH analysis, we have identified six overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in patients with ACD/MPV and MCA. 19500772 2009
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.090 Biomarker disease BEFREE Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. 19154522 2009