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

  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},
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.

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.



Phenotype profiling of patients with intellectual disability and copy number variations.

Chromosomal microarray testing influences medical management

The results support the use of CMA as a clinical diagnostic test that influences medical management for this patient population and for a majority of patients with abnormal variants and a substantial proportion of those with VPS.

Practice parameter: Evaluation of the child with global developmental delay

A specific etiology can be determined in the majority of children with global developmental delay and certain routine screening tests are indicated and depending on history and examination findings, additional specific testing may be performed.

[The genetic bases of neurodevelopmental disorders].

In this review the objective is to describe the current scenario that has arisen following the latest advances in genetics, which includes the identification of variations in the number of copies, indiscriminately linked to different disorders; the concurrence of multiple variants for a single disorder; and epigenetic modulation.

Clinical Significance of De Novo and Inherited Copy‐Number Variation

Patients with multiple CNVs presented with a more severe phenotype than patients with a single CNV, pointing to a combinatorial effect of the additional CNVs, and 20 de novo single‐gene CNVs that directly indicate novel genes for ID/MCA are identified.

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

Evidence is provided for intrafamilial phenotypic variability of paternal dup 15q11–q13, ranging from normal to intellectual disability and seizures, and potentially expanding the phenotype of paternal 15q 11-q13 interstitial duplications.