Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

2006 ◽  
Vol 115 (3-4) ◽  
pp. 247-253 ◽  
Author(s):  
F. Erdogan ◽  
W. Chen ◽  
M. Kirchhoff ◽  
V.M. Kalscheuer ◽  
C. Hultschig ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Aberrations ◽  
Low Copy Repeats

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.

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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