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Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation Universiteit Gent
Mental retardation or intellectual disability is a complex disorder that affects 2 to 3% of the general population and is one of the main reasons for referral to clinical genetic services. The etiology of mental retardation is highly heterogeneous. Genetic defects, ranging from mutations in single genes to large chromosomal imbalances (> 5 Mb) that are detectable by conventional karyotyping, represent the primary cause. Nevertheless, in the ...
Microarray Comparative Genome Hybridization in mental retardation / congenital malformations KU Leuven
Microarray Comparatieve Genoom Hybridisatie in mentale retardatie / c ongenitale malformaties Mentale retardatie (MR) wordt gekenmerkt door beperking in zowel intellectueel functioneren (IQ<70) als in verscheidene niveaus van aanpassend gedrag. De huidige studie illustreert de resultaten en de toenemende ervaring op het gebied van mentale retardatie welke verkregen zijn met behulp van klinisch cytogenetisch onderzoek. Chromosomale afwijkingen ...
Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease Vrije Universiteit Brussel
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome Universiteit Gent
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome Vrije Universiteit Brussel
Although previous studies of Gillespie syndrome have systematically reported a generalized
delay of cognitive development (mental retardation or oligophrenia), psychometric
data to substantiate this view are strikingly absent. In the present study two first degree
relatives (mother and daughter) with Gillespie syndrome were neuropsychologically investigated.
Aside from a marked asymmetry in the Wechsler-IQ profile, ...
delay of cognitive development (mental retardation or oligophrenia), psychometric
data to substantiate this view are strikingly absent. In the present study two first degree
relatives (mother and daughter) with Gillespie syndrome were neuropsychologically investigated.
Aside from a marked asymmetry in the Wechsler-IQ profile, ...
A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12 Universiteit Antwerpen
We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the clinical symptoms of our patient include NOTCH3 (MIM600276), causative of the vascular neurodegenerative disorder CADASIL and CASP14 (MIM605848), playing a ...
Balanced translocations in mental retardation Universiteit Antwerpen
Over the past few decades, the knowledge on genetic defects causing mental retardation has dramatically increased. In this review, we discuss the importance of balanced chromosomal translocations in the identification of genes responsible for mental retardation. We present a database-search guided overview of balanced translocations identified in patients with mental retardation. We divide those in four categories: (1) balanced translocations ...
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation Universiteit Antwerpen
Microdeletions, either subtelomeric or interstitial, are responsible for the mental handicap in approximately 1020% of all patients. Currently, Multiplex Ligation-dependent Probe Amplification (MLPA) is widely used to detect these small aberrations in a routine fashion. Although cost-effective, the throughput is low and the degree of multiplexing is limited to maximally 4050 probes. Therefore, we developed an array-based MLPA method, with probes ...
Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation KU Leuven
ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in ...