Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere fish probes

2003 ◽  
Vol 117A (3) ◽  
pp. 302-303 ◽  
Author(s):  
Bonnie J. Hulley ◽  
Marybeth Hummel ◽  
Sharon L. Wenger
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Facial Features

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).

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

2003 ◽  
Vol 120A (4) ◽  
pp. 564-565 ◽  
Author(s):  
Carlos Eduardo Steiner ◽  
Marilisa Mantovani Guerreiro ◽  
Antonia Paula Marques-de-Faria
Keyword(s):  
Mental Retardation ◽  
Facial Features

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

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

2003 ◽  
Vol 116A (4) ◽  
pp. 385-388 ◽  
Author(s):  
L. Garavelli ◽  
A. Donadio ◽  
C. Zanacca ◽  
G. Banchini ◽  
E. Della Giustina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung Disease ◽  
Facial Features

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

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