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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.
They come in all shapes and sizes. Some walk, some slither, some fly and some swim. Humans are blessed to share the planet with just over 2.1 million recognized species of animals.And scientists ...
Spinal muscular atrophy is a genetic condition set in motion before birth that causes worsening muscle weakness. There are four types of the disorder, each with varying degrees of severity.
Overgrowth syndromes in children constitute a group of rare disorders that are characterised by tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved.
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. [ 1 ]
Or children. And we didn’t yet have a daughter who requires round-the-clock care. Our 9-year-old was born with a genetic deletion so rare it has no name, has severe autism spectrum disorder and ...
Older parents, especially fathers, tend to have a higher risk of having children with de novo mutations due to the higher number of cell divisions in the male germ line as men age. [ 5 ] In genetic counselling, parents are often told that after having a first child with a condition caused by a de novo mutation the risk of a having a second ...
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. [2] It was first described by Jérôme Lejeune in 1963. [3]