Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

2008 ◽  
Vol 146A (16) ◽  
pp. 2109-2115 ◽  
Author(s):  
P. Callier ◽  
L. Faivre ◽  
C. Thauvin-Robinet ◽  
N. Marle ◽  
A.L. Mosca ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Malformations ◽  
Array Cgh ◽  
Goldenhar Syndrome ◽  
Dysmorphic Features

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

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.

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

Xq28 duplication in a boy with mental retardation, hyperkinesia and dysmorphic features - a case report

2011 ◽  
Vol 26 (S2) ◽  
pp. 804-804
Author(s):  
B. Budisteanu ◽  
A. Arghir ◽  
A. Tutulan-Cunita ◽  
S.M. Chirieac ◽  
M. Budisteanu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
Array Cgh ◽  
Mecp2 Gene ◽  
Speech Delay ◽  
Dysmorphic Features ◽  
The Past ◽  
Xq28 Duplication ◽  
Cerebral Mri ◽  
Pediatric Psychiatry

IntroductionX-linked mental retardation (XLMR) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. Although research during the past decade has identified >90 XLMR genes, many more remain uncharacterized. In XY males, duplication of any part of the X chromosome leads to functional disomy of the corresponding genes.ObjectiveIn this paper we present the case of a boy with a syndrome of Xq28 duplication. Methods: We present a 6 years old boy, admitted in the Department of Pediatric Psychiatry for evaluation. He presented sever mental retardation, autistic features, speech delay, hyperkinesia, and dysmorphic features (high forehead, partial palpebral ptosis, small nose, carp-shaped open mouth, micrognathia), recurrent infections. Cerebral MRI was normal. Genetic investigations, including katyotype with GTG banding and array-CGH, were performed.ResultsArray-CGH indicated a dup(X)(q28) of less than 1.5 Mb. There were 15 duplicated genes, including MECP2 gene, which is involved in autism and mental retardation.ConclusionsDuplications at Xq28 are often associated with autistic features/non-syndromic MR; alterations in MECP2 gene (duplicated in our patient) are described in Rett syndrome or as a specific phenotype. The alteration occurring at Xq28 band is responsible for the patient’s phenotype. Clinical manifestation of this child will be compared with those of other patients with the same duplication previously described to further delineate this syndrome.

scholarly journals Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth

2021 ◽  
pp. 1-5
Author(s):  
Matthias Fischer ◽  
Eva Klopocki
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Mild Mental Retardation ◽  
22Q11.2 Deletion ◽  
Dysmorphic Features ◽  
Clinically Significant ◽  
Reduced Penetrance ◽  
22Q11.2 Microduplication

The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.

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