• defects
  • ZFP57 Gene Third, mother's hypomethylation defects (a genetic defect that stops the allele from getting a methyl group, which would inhibit transcription) can occur from an isolated genomic imprinting or occur as a defect called, "hypomethylation imprinted loci" (HIL). (wikipedia.org)
  • abnormalities
  • These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. (nih.gov)
  • In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. (nih.gov)
  • From early adolescence, patients with this condition gradually (and much of the time 'silently')[vague] develop hundreds to thousands of colorectal polyps (and sometimes polyps elsewhere)-small abnormalities at the surface of the intestinal tract, especially in the large intestine including the colon or rectum. (wikipedia.org)
  • In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females.Recent genetic studies suggest that the cause of a significant proportion of amelogenesis imperfecta cases remains to be discovered. (wikipedia.org)
  • hereditary
  • The term "hereditary prosopagnosia" was introduced if DP affected more than one family member, essentially accenting the possible genetic contribution of this condition. (wikipedia.org)
  • Genetics
  • This study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling. (clinicaltrials.gov)
  • A 39-year-old male who works as a general manager presented to the Cancer Genetics Risk Assessment program for genetic counseling due to a personal history of rectal cancer at the age of 38. (frontiersin.org)
  • and those - most conditions - in which genetics and environmental factors make comparable, though not necessarily equal, contributions. (encyclopedia.com)
  • Diagnosis
  • In such cases diagnosis may be delayed as the person affected may not seek help for the condition. (socialstyrelsen.se)
  • The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical specialties. (wikipedia.org)
  • The diagnosis of oculopharyngeal muscular dystrophy can be done via two methods, a muscle biopsy or a blood draw with genetic testing for GCG trinucleotide expansions in the PABPN1 gene. (wikipedia.org)
  • The genetic blood testing is more common.Additionally, a distinction between OPMD and myasthenia gravis or mitochondrial myopathy must be made, in regards to the differential diagnosis of this condition. (wikipedia.org)
  • colorectal cancer
  • The science of genomics relies on knowledge of and access to the entire genome and applies to common conditions, such as breast and colorectal cancer, Parkinson's disease, and Alzheimer's disease. (encyclopedia.com)
  • severity
  • Treatment for MFD depends on the child's age and the severity of the condition. (healthsparks.org)
  • Even within the same family (as there is a 50% chance that a parent will pass their condition to their offspring) levels of severity can vary enormously. (wikipedia.org)
  • Tourette's also shows variable expression-even family members with the same genetic makeup may show different levels of symptom severity. (wikipedia.org)
  • focal
  • The following variable patterns are reported in interictal encephalography: (1) normal, (2) discontinuous, (3) focal or multifocal sharp waves or epileptiform patterns, and (4) theta pointu alternant. (medscape.com)
  • usually
  • There are many other associated conditions and usually these are not associated with cancer . (healthtap.com)
  • In primary dentition the maxilla is more affected, with the condition usually involving the maxillary lateral incisor . (wikipedia.org)
  • This condition is usually accompanied by gingival hyperplasia. (wikipedia.org)
  • Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring of the intestinal tract every 1 - 5 years for life, from early adulthood, to detect the slow-forming polyps and act if found, before they can pose a threat. (wikipedia.org)
  • known
  • Because of their appearance and formation of web-like patterns they are also known as spider veins. (wikipedia.org)
  • It is sometimes part of known genetic syndromes such as triple X-Y (XXXY), Apert's, William's, or Holt-Oram. (wikipedia.org)
  • person
  • This person will then have a 50 percent chance of passing the condition on to his or her children. (healthsparks.org)
  • The first thing that is apparent on looking at a person affected by the condition is the presence of anti-mongoloid palpebral fissures and the partially absent eyelids. (healthsparks.org)
  • The condition is slowly degenerative, but the rate of progression and degree of visual loss varies from person to person and even among affected members of the same family. (retina-international.org)
  • people
  • Because the face seems to function as an important identifying feature in memory, it can also be difficult for people with this condition to keep track of information about people, and socialize normally with others. (wikipedia.org)
  • People with this condition are sometimes performers at circuses because of their unusual appearance. (wikipedia.org)
  • It may be that a genetic tendency to develop otosclerosis is inherited by some people. (wikipedia.org)
  • developmental
  • To examine this possible genetic factor, 689 randomly selected students were administered a survey in which seventeen developmental prosopagnosics were quantifiably identified. (wikipedia.org)