Items tagged “genetics”
7 results found
Article
Locus heterogeneity
Locus heterogeneity is a genetics term referring to different genes resulting in the same phenotype 1. An example of a condition demonstrating locus heterogeneity Joubert syndrome and related disorders.
Article
Allelic heterogeneity
Allelic heterogeneity is a genetics term referring to same gene mutations resulting in different phenotypes 1. An example of a condition demonstrating allelic heterogeneity is Joubert syndrome and related disorders.
Case
Labrune syndrome
Published
05 Nov 2015
70% complete
MRI
CT
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
Radiogenomics
Radiogenomics denotes the relationship between the imaging features of a particular disease and various genetic or molecular features. The former is referred to as an imaging phenotype, whereas the later as genomic phenotype.
Radiogenomics, therefore, provides a tool for clinicians to correlat...
Article
Progressive myoclonic epilepsy
The progressive myoclonic epilepsies form a disparate group of rare severe conditions that are characterized by deteriorating action myoclonus, although other CNS symptoms and signs are often present.
Unverricht–Lundborg disease (EPM1)
Lafora body disease (EPM2)
action myoclonus renal failure...
Article
12q14 microdeletion syndrome
12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis.
Epidemiology
Prevalence is <1 in 1 million li...
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