By Stacey Blachford
Publication via Blachford, Stacey
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Extra info for The Gale encyclopedia of genetic disorder A-L
That is, if one child develops infantile acid maltase deficiency, a second child, if affected with the disorder, will also develop the infantile form. The third mutation on the gene responsible for the production of acid maltase is a complicated mutation within intron 1 that causes the cutting out of exon 2. This mutation is generally not complete in every copy of the gene within a given individual so it is associated with a partial ability of the affected individual to produce acid maltase. Individuals with this mutation will be affected with either childhood (type b), or, more commonly, adult (type c) acid maltase deficiency.
Because of the large number of skeletal dysplasias, it can be very difficult to definitively diagnose achondroplasia by sonogram. Many other dwarfing syndromes can look very similar to achondroplasia on a sonogram. Prenatal testing can also be done using DNA technology. A sample of tissue from a fetus is obtained by either chorionic villi sampling (CVS) or by amniocentesis. Chorionic villi sampling is generally done between 10-12 weeks of pregnancy and amniocentesis is done between 16-18 weeks of pregnancy.
Genetic profile The cause of acrocallosal syndrome is unknown. There are sporadic, or random, cases, and reports of multiple cases within families. Studies involving affected families have suggested an autosomal recessive pattern of inheritance. This means that both parents carry the altered form of the gene and the affected child inherited both copies. Following this pattern, each child born will have a 25% risk of being affected. To help determine which chromosome or gene location causes the syndrome, acrocallosal syndrome has been compared with similar disorders.
The Gale encyclopedia of genetic disorder A-L by Stacey Blachford