By: Amelia Emery
Deafness-dystonia-optic-neuronopathy syndrome (DDON), also known as Mohr-Tranebjaerg syndrome, is a disorder that causes progressive loss of hearing, visual acuity, and neurological control of the body’s actions as well as behavior. This syndrome is found exclusively in males as it is caused by a mutant...
By: Gioia Degenaars
When an egg meets a sperm (or gametes), a delicate symphony of genetic information is fused. Half of that genetic information is given by the maternal parent and the other half is given by the paternal half. The gametes must be as perfect as possible...
By: Dr. Bryan Katz
Huntington's disease (HD) is a central nervous system disorder marked by a progressive loss of motor control; involuntary movements of the upper body (sometimes called chorea because these tics vaguely resembles dancing); followed by autonomic dysfunction, dementia, and eventually death. In most cases, death occurs...
By: Amelia Emery
Chromosome 17, like the other 22 pairs of chromosomes found in the human genome, plays a highly integral and important role in the development and growth of humans. There are an estimated 1,200 to 1,500 genes located on this specific pair that are...
The genetics underlying elephant man disorder
By: Zain Arif
The name “Elephant Man” was used by Englishman Joseph Carey Merrick when, in the late 1800s, he was exhibited as a human curiosity due to his severe physical deformities. His condition began to develop early in his age, starting off as tumors on the...
By: Dr. Bryan Katz
Joseph Merrick (1862-1890), known throughout England as the Elephant Man, may have had the most severe case of neurofibromatosis (NF) documented in the annals of medical literature. In the 19th century, nothing was known about the genetic basis of NF, or of any other disease...
By: Amelia Emery
Proteus syndrome is a very rare genetic disorder that is characterized by the over abundance of growth in tissues and bones. There is an estimated 100 individuals with Proteus syndrome out of the entire population of the world and it occurs in less than one...
Genetic mutations associated with aneuploidy
By: Dr. Bryan Katz
The term aneuploidy refers to any abnormal karyotype, or chromosomal endowment. With the exception of gametes and the XY sex chromosomes males, most human cells are diploid, meaning they contain two copies of the other 22 chromosomes (referred to as autosomes). Some cases of aneuploidy...
By: Amelia Emery
The definition of aneuploidy is when the number of chromosomes found in a cell is either higher or lower than normal. In human cells, the correct number of chromosomes is 46. Anything more or less than this number would be considered to be an aneuploid...
By: Amelia Emery
Aneuploidy is a condition in which the number of chromosomes in a cell is either higher or lower than the normal number. Cells with extra or fewer chromosomes do not function normally due to the imbalance of chromosomes as well as the extra genetic expression...

 

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