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Gonadal dysgenesis; Specialty: Medical genetics : Diagnostic method: pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family history
Chromosome 10 ring; Chromosome 10, distal trisomy 10q; Chromosome 10, monosomy 10p; Chromosome 10, monosomy 10q; Chromosome 10, trisomy 10p; Chromosome 10, trisomy 10pter p13; Chromosome 10, trisomy 10q; Chromosome 10, uniparental disomy of; Chromosome 10p terminal deletion syndrome; Chromosome 11, deletion 11p; Chromosome 11, partial trisomy 11q
A breakage and reunion in the pericentric region of the p arm results in a dicentric isochromosome. [4] Some of the p arm can be found in this formation of i(Xq), but a majority of the genetic material on the p arm is lost so it is considered absent.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself. [5]
Research is done on 10-12 genes on 1q21.1 that produce DUF1220-locations. DUF1220 is an unknown protein , which is active in the neurons of the brain near the neocortex . Based on research on apes and other mammals , it is assumed that DUF1220 is related to cognitive development (man: 212 locations; chimpanzee: 37 locations; monkey: 30 ...
Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. [1] Deletions in the SMN-encoding gene cause spinal muscular atrophy, the most common genetic cause of infant death. Microdeletions are associated with many different conditions, including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. [10]
List of endocrine diseases; List of eponymous diseases; List of eye diseases and disorders; List of intestinal diseases; List of infectious diseases; List of human disease case fatality rates; List of notifiable diseases - diseases that should be reported to public health services, e.g., hospitals. Lists of plant diseases; List of pollution ...