scholarly journals Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

2012 ◽  
Vol 113 (4) ◽  
pp. 279-288
Author(s):  
V. Cabras ◽  
A. Milia ◽  
C. Montaldo ◽  
Anna Lisa Nucaro
Keyword(s):  
Mental Retardation ◽  
Chromosomal Aberrations ◽  
Reliable Method ◽  
Array Cgh ◽  
Chromosomal Rearrangements ◽  
Phenotype Correlation ◽  
Dysmorphic Features ◽  
Genome Wide ◽  
Genome Array ◽  
Idiopathic Mental Retardation

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

2011 ◽  
Vol 59 (6) ◽  
pp. 309-313
Author(s):  
A. Debost-Legrand ◽  
Y. Capri ◽  
L. Gouas ◽  
C. Pebrel-Richard ◽  
L. Veronese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Unbalanced Translocation ◽  
Dysmorphic Features

Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population

2011 ◽  
Vol 15 (9) ◽  
pp. 607-611 ◽  
Author(s):  
Katerina Hirschfeldova ◽  
Alice Baxova ◽  
Vera Kebrdlova ◽  
Roman Solc ◽  
Romana Mihalova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Rearrangements ◽  
Czech Population ◽  
Idiopathic Mental Retardation

Investigation of mental retardation etiology in romanian children using clinical, cytogenetic and array-CGH diagnostic techniques

2011 ◽  
Vol 26 (S2) ◽  
pp. 898-898
Author(s):  
M. Budisteanu ◽  
A. Arghir ◽  
S.M. Chirieac ◽  
A. Tutulan-Cunita ◽  
C. Burloiu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Diagnostic Techniques ◽  
Dysmorphic Features ◽  
Microdeletion Syndromes ◽  
Important Diagnostic Tool ◽  
Underlying Causes ◽  
Neurological Features ◽  
And Behavior ◽  
Unusual Phenotype

IntroductionMental retardation (MR) is the most common developmental disability, affecting 2–3% of the general population. A major challenge in both clinical practice and research in the field of MR is to identify the underlying causes: genetic, chromosomal and environmental factors that have an influence on a person's development and behavior.ObjectiveWe present the results of our study regarding genetic abnormalities associated with mental retardation in children.MethodsA total of 180 children were studied using a diagnostic protocol based on dysmorphologic and clinical assessment. A disease, familial and personal history were noted. All patients were evaluated by clinical and paraclinical exams (including dysmorphological features, psychological tests, neurological features, neuroimagistic studies). Genetic investigations included a karyotype with GTG banding, FISH and array-CGH.ResultsA specific causes for the mental handicap was identified in 80 children (44%).These included a chromosomal abnormality in 32 cases (17%), microdeletion syndromes in 25 children (14%), recognizable syndromes in 23 (13%). Array CGH identified a 22q11 deletion in a girl with unusual phenotype for DiGeorge syndrome, a Xp21 duplication in a girl with severe phenotype (including sever mental retardation, epilepsy, dysmorphic features, genital anomalies, glaucoma, dental anomalies), and a 4p14 deletion in a girl with moderate mental retardation, dysmorphic features, diparesis, congenital heard malformation.ConclusionsWhile clinical diagnosis and conventional techniques form the mainstay of investigation of children with mental retardation, array CGH proved important diagnostic tool. Acknowledgments: National Research Program PN II, Project 42–130, CAPACITATI 29/2007–2009 Project; CNCSIS, Project 1203

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