The use of genomic microarrays to study chromosomal abnormalities in mental retardation

2005 ◽  
Vol 11 (4) ◽  
pp. 279-285 ◽  
Author(s):  
Rong Mao ◽  
Jonathan Pevsner
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities

The effects of educator attitudes and expectations on the educational programming for children with Down's Syndrome in the context of integration

1988 ◽  
Vol 2 ◽  
pp. 43-48
Author(s):  
Cam Wright
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Severe Mental Retardation ◽  
Educational Programming ◽  
Educator Attitudes

Down's Syndrome has long been associated with mental retardation. This has resulted in expectations of moderate or severe mental retardation in individuals with Down's Syndrome (Hopkins, 1983). Although there has been acceptance of the possibility of variability of attainments, a certain predictability of outcome has been assumed since Down's Syndrome is a condition resulting from known chromosomal abnormalities (Springer & Steele, 1980; Hopkins, 1983).

scholarly journals Chromosomal abnormalities associated with mental retardation in female subjects

2009 ◽  
Vol 15 (1) ◽  
pp. 28 ◽  
Author(s):  
Kanchan Mukhopadhyay ◽  
Samikshan Dutta ◽  
Jyoti Shaw ◽  
Swagata Sinha
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Female Subjects

scholarly journals A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

2018 ◽  
Vol 21 (2) ◽  
pp. 63-67
Author(s):  
S Zachaki ◽  
E Kouvidi ◽  
A Mitrakos ◽  
L Lazaros ◽  
A Pantou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Mendelian Inheritance ◽  
Paracentric Inversion ◽  
Comparative Genomic ◽  
Published Data ◽  
Genomic Hybridization

Abstract A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization (aCGH) revealed that the 20q inversion was not accompanied by microdeletions/microduplications containing disease-associated genes near or at the breakpoints. Two deletions at chromosomal regions 11q14.3q21 and 20q12 of 4.5 and 1.97 Mb size, respectively, containing important online Mendelian inheritance in man (OMIM) genes, were detected. The 4.5Mb 11q14.3q21 microdeletion was contained within a region that is involved, in most of the reported cases, with the interstitial 11q deletion and may be related to the mental retardation and developmental delay present in the patient. On the other hand, the published data about the 20q12 microdeletion are very few and it is not possible to correlate this finding with our patient’s phenotype. This case report contributes to the description of a new chromosomal entity, not previously reported, and is therefore important, especially in prenatal diagnosis and management of patients. Array comparative genomic hybridization has proven a useful technique for detecting submicroscopic rearrangements and should be offered prenatally, especially in cases of de novo karyotypically balanced chromosomal inversions or translocations in order to unveil other unbalanced chromosomal abnormalities such as deletions and amplifications.

Autism, mental retardation, and chromosomal abnormalities

1986 ◽  
Vol 16 (4) ◽  
pp. 425-440 ◽  
Author(s):  
Robin Mariner ◽  
Alfred W. Jackson ◽  
Andrew Levitas ◽  
Randi J. Hagerman ◽  
Marcia Braden ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities

An 8q21 Deletion in a Patient with Comorbid Psychosis and Mental Retardation

CNS Spectrums ◽  
2005 ◽  
Vol 10 (11) ◽  
pp. 864-866 ◽  
Author(s):  
Nora Urraca ◽  
Maria de la Luz Arenas-Sordo ◽  
Abigail Ortiz-Domínguez ◽  
Angélica Martínez ◽  
Bertha Molina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Gene ◽  
Psychiatric Disorders ◽  
Intelligence Quotient ◽  
Chromosomal Abnormalities ◽  
Psychiatric Patients ◽  
Cytogenetic Study ◽  
Psychotic Patient ◽  
Mild Mental Retardation ◽  
Minor Anomalies

ABSTRACTSystematic investigations indicate that some of the recognized psychiatric disorders can be identified among those with mental retardation due to chromosomal abnormalities. We report a psychotic patient with mild mental retardation (intelligence quotient: 68) and minor anomalies that had a chromosomal aberration not previously described in a psychotic patient. Our patient highlights the importance of the cytogenetic study in psychiatric patients with comorbid mental retardation or minor anomalies. In addition, her psychosis symptoms may be helpful to propose a new candidate gene for psychosis.

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

2006 ◽  
Vol 140A (20) ◽  
pp. 2180-2187 ◽  
Author(s):  
Anne-Marie Bisgaard ◽  
Maria Kirchhoff ◽  
Zeynep Tümer ◽  
Birgit Jepsen ◽  
Karen Brøndum-Nielsen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Abnormal Karyotype ◽  
Dysmorphic Features ◽  
Additional Chromosomal Abnormalities

scholarly journals A case report of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21

2017 ◽  
Vol 63 (5) ◽  
pp. 329-333
Author(s):  
Elizaveta M. Orlova ◽  
Marina V. Kurkina ◽  
Leila S. Sozaeva ◽  
Maria A. Kareva ◽  
Ilya V. Kanivets ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Muscular Dystrophy ◽  
Adrenal Insufficiency ◽  
Chromosomal Abnormalities ◽  
Gene Dosage ◽  
Chromosome Region ◽  
Glycerol Kinase ◽  
Genetic Syndrome ◽  
Monogenic Disorders ◽  
Congenital Adrenal Hypoplasia

Contiguous gene syndromes (CGS) are the disorders caused by chromosomal abnormalities: deletions, duplications, or other complex rearrangements that alter gene dosage. Initially, before their chromosomal nature is elucidated, they may be misdiagnosed as monogenic disorders depending on the leading clinical symptom cluster. The altered chromosomal region in individuals with this condition is typically less than 5 Mb in size and sometimes cannot be identified by conventional karyotyping. Patients present with signs of the diseases associated with each individual monogenic disorder. The Xp21-linked genetic syndrome, or glycerol kinase deficiency (GKD) (MIM 300474), is an example of this syndrome [1–3]. The genes coding for glycerol kinase (GK), congenital adrenal hypoplasia (NR0B1), and dystrophin (DMD) follow each other in the Xp21.2—p21.3 region. Deletions of an X-chromosome region may cause several monogenic disorders in one patient, including primary adrenal insufficiency and hypogonadotropic hypogonadism as a result of deletion in the NR0B1 gene, Duchenne muscular dystrophy (or a milder form, Becker muscular dystrophy) resulting from deletion in the dystrophin gene, and mental retardation as a result of deletion in the glycerol kinase gene. We report a case of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21.

scholarly journals MOLECULAR CYTOGENETIC CHARACTERIZATION OF AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY

2013 ◽  
Vol 16 (2) ◽  
pp. 73-76
Author(s):  
W. Al-Achkar ◽  
A. Wafa ◽  
A. Al-Ablog ◽  
F. Moassass ◽  
T. Liehr
Keyword(s):  
Mental Retardation ◽  
Y Chromosome ◽  
Chromosomal Abnormalities ◽  
Pcr Analysis ◽  
Fish Analysis ◽  
Pericentric Inversions ◽  
Cytogenetic Characterization ◽  
Human Y Chromosome

ABSTRACT Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversions the risk of mental retardation or multiple abortions is not apparently increased and there is no relation with abnormal phenotypic features. Polymerase chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we present a detailed molecularcytogenetic characterization of a father and his two sons having an inv(Y)(p11. 2q11.221~q11.222) with varying mental retardation features but otherwise normal phenotype

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