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Marfan syndrome is inherited in an autosomal-dominant pattern. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member.
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]
Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] ... Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.
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.
Individuals with Marfan Syndrome usually have fingers that are longer than those that do not have the syndrome. The extremity of difference in finger length is a result of variable expressivity. Some common syndromes that involved phenotypic variability due to expressivity include: Marfan syndrome, Van der Woude Syndrome, and neurofibromatosis.
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.
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. [4] [5] These features include a tall, thin stature and long, slender limbs. [5]