Search results
Results from the WOW.Com Content Network
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.
Blau syndrome; Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz ...
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics , cytogenetics , molecular genetics , biochemical genetics , genomics , population genetics , developmental genetics , clinical genetics , and genetic counseling .
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
Microcephaly albinism digital anomalies syndrome; Mirror polydactyly-vertebral segmentation-limb defects syndrome; Morse–Rawnsley–Sargent syndrome; Multicentric carpotarsal osteolysis syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome; Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [ 6 ] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . [ 7 ]