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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. There are over 6,000 known genetic disorders in humans.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Childhood or teens depending on type. [ 3] Ehlers–Danlos syndromes ( EDS) are a group of 13 genetic connective-tissue disorders. [ 7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1] These may be noticed at birth or in early childhood. [ 3]
Bifid nose. Bilateral frontoparietal polymicrogyria. Biotin-thiamine-responsive basal ganglia disease. Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Blue-cone monochromacy. Brachial amelia, cleft lip, and holoprosencephaly. Branched-chain keto acid dehydrogenase kinase deficiency.
This happens with or without the loss of genetic material. Isochromosome: Formed by the mirror image copy of a chromosome segment including the centromere. Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of ...
v. t. e. Disorders of sex development ( DSDs ), also known as differences in sex development or variations in sex characteristics ( VSC ), [ 2] [ 3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [ 4]
Genetics is the study of genes and tries to explain what they are and how they work. Genes are how living organisms inherit features or traits from their ancestors; for example, children usually look like their parents because they have inherited their parents' genes. Genetics tries to identify which traits are inherited and to explain how ...
This type of testing is offered to individuals who have a family history of a genetic disorder and to people in ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition like cystic fibrosis .