Phenotype in patients with intellectual disability and pathological results in array CGH.

@article{Prez2017PhenotypeIP,
  title={Phenotype in patients with intellectual disability and pathological results in array CGH.},
  author={Victoria Caballero P{\'e}rez and F. J. L{\'o}pez Pis{\'o}n and Mar{\'i}a Dolores Miramar Gallart and A. Gonz{\'a}lez {\'A}lvarez and Mar{\'i}a Concepci{\'o}n Garc{\'i}a Jim{\'e}nez and Juan Pablo Garc{\'i}a {\'I}{\~n}iguez and Claudia Rueda and I. Gil Hern{\'a}ndez and Cristina Fuertes Rodrigo and Ruth Fernando Mart{\'i}nez and Ana Rodr{\'i}guez Valle and Magda Villarroya},
  journal={Neurologia},
  year={2017},
  volume={32},
  pages={568-578}
}
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5 Citations

5 Citations

Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances.

Evidences point that every individual with DD/ID, with no specific clinical suspicion, should have screening for GIs as a first-tier test, regardless of the presence or absence of additional major anomalies or dysmorphisms.

Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability

Cardiac defect alongside GDD/ID, emerged as the single strongest phenotype associated with pCNVs and CMA also provided vital information in previously karyotyped patients.

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

Analysis of clinical and molecular cytogenetic data in order to identify what elements could be useful to interpret unknown or poorly described aberrations contributes to make the investigative process of CNVs more informative and suggests possible directions in aCGH interpretation and phenotype correlation.

Repercusión clínica de la traslocación t(7;15) (p22;q26) en varios miembros de una misma familia

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

The diagnostic yield nominally correlated with ID severity was significantly higher in subgroups with co-occurring congenital heart defects, facial dysmorphism, microcephaly, or hypotonia, and the presence of comorbid conditions can be among factors to consider when planning CMA.

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