Question

Please DO NOT COPY from any website. UNIQUE UNIQUE

Discussion :

The "Online Mendelian Inheritance in Man" website (www.omim.org) is a great source for information about human genes and genetic traits. Each entry has a unique six-digit number. Autosomal dominant traits have entries that start with a 1, autosomal recessive traits a 2, X-linked a 3, mitochondrial a 5, and specific genes have a number that starts with a 6. I would like you to research one genetic disorder and write a brief paragraph describing the disorder as well as the gene involved and the function of the gene product (if known). To make this first topic easy, I am including a list of choices with a link to the Genetics Home Reference page which describes the gene and the function of the gene product and the entry number to search for on www.omim.org. If you choose a topic from my list then you do not need to post the reference. However, if you would prefer to choose a disorder that is not on the list then you will need to list your reputable source (.org/.gov/.edu).

Here is the list: please write about number 11. Holoprosencephaly, link http://ghr.nlm.nih.gov/gene/SHH

11. Holoprosencephaly: http://ghr.nlm.nih.gov/gene/SHH; MIM 142945

Answer 1

Weill-Marchesani syndrome- This syndrome is named by the scientist who discover it. This type of syndrome may be autosomal dominant and recessive. The common characterstics include short stature with facial abnormality like distinctive eyes (as well as ocular defects which prone for dislocation and have varying digree of visual impairment), short and broad head. The hands of that person who suffered from it is diffective. The patients which are suffered from this syndrome have no cure whether some treatments like physical therapy and orthopedic treatments are given to improve quality of life.