enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. 16p11.2 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/16p11.2_deletion_syndrome

    16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]

  3. Heritability of autism - Wikipedia

    en.wikipedia.org/wiki/Heritability_of_autism

    Examples of autism that has arisen from a rare or de novo mutation in a single-gene or locus include neurodevelopmental disorders like fragile X syndrome; metabolic conditions (for example, propionic acidemia); [64] and chromosomal disorders like 22q13 deletion syndrome and 16p11.2 deletion syndrome. [65]

  4. Burnside–Butler syndrome - Wikipedia

    en.wikipedia.org/wiki/Burnside–Butler_syndrome

    The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders of 10,351 consecutive patients presenting for genetic laboratory testing who had autism spectrum disorders ...

  5. 17q12 microdeletion syndrome - Wikipedia

    en.wikipedia.org/wiki/17q12_microdeletion_syndrome

    17q12 microdeletion syndrome is an autosomal dominant disorder, where one copy of the relevant mutation is enough to cause the condition. Most cases are de novo, or spontaneous mutations that do not occur in the proband's parents; [10] approximately 75% are de novo, while 25% are inherited. [4]

  6. Causes of autism - Wikipedia

    en.wikipedia.org/wiki/Causes_of_autism

    Brain sections related to autism. Many causes of autism, including environmental and genetic factors, have been recognized or proposed, but understanding of the theory of causation of autism is incomplete. [1] Attempts have been made to incorporate the known genetic and environmental causes into a comprehensive causative framework. [2]

  7. Epigenetics of autism - Wikipedia

    en.wikipedia.org/wiki/Epigenetics_of_autism

    Rett syndrome brain samples and autism brain samples show immaturity of dendrite spines and reduction of cell-body size due to errors in coupled regulation between MECP2 and EGR2. [62] However, because of the multigene involvement in autism, the MECP2 gene has only been identified as a vulnerability factor in autism. [ 63 ]

  8. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p ...

  9. 3q29 microdeletion syndrome - Wikipedia

    en.wikipedia.org/wiki/3q29_microdeletion_syndrome

    Of the 6 reported patients, additional features including autism, ataxia, chest-wall deformity and long, tapering fingers were found in at least two patients. [1] A review of 14 children with interstitial deletions of 3q29, found 11 who had the common recurrent 1.6Mb deletion and displayed intellectual disability and microcephaly. [3]