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The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is ...
Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26] Since the penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
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]
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is ...
A genetic trait, brachydactyly type D exhibits autosomal dominance and is commonly developed or inherited independently of other hereditary traits. The condition is associated with the HOXD13 gene, which is central in digital formation and growth. [5] Various other studies supported an autosomal dominant pattern with reduced penetrance. [8]
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Specialty. Medical genetics. Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). [1] The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL ...
Kearns–Sayre syndrome occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant, or autosomal recessive inheritance. There is no predilection for race or sex, and there are no known risk factors. As of 1992 there were only 226 cases reported in published literature ...