Mohammad Ekrama
Biology 22
Professor Clark
1october 2016
Christianson Syndrome
Abstract:
Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually inherited, In males, by receiving just one of the mutated chromosomes. As a result of the rarity of inheriting two mutated X chromosomes of this disorder, The majority of the females, who were exposed to Christianson Syndrome become carriers. Even though …show more content…
There are several physical symptoms of Christianson disorder that include: a slim chest, an open mouth, lower body weight, a long and slender face, adducted thumbs, drooling, and deeply set eyes. People with Christianson syndrome usually have a joyful appearance, associated with constant smiling and uncontrollable laughing. ("Christianson Syndrome," n.d.). Albeit a significant number of these symptoms are like those of Down syndrome and Autism, the mental symptoms of this sickness are what make it so one of a kind and uncommon. These symptoms differ because of the way it is inherited; due to the recessive X-linked gene which causes this disorder, females would only be affected if both of their X chromosomes are mutated, which is especially uncommon. In any case, females who are carriers of Christianson Syndrome (who have only one affected X chromosomes) fluctuate from demonstrating no symptoms at all to showing extreme mental retardation. Males, likewise, need only one affected X chromosome to acquire the full scope of symptoms for this disorder (Kniffin, Hamosh, & McKusick, 2000). The symptoms involved include, but are not restricted to: microcephaly (a neurological illness in which an individual’s head is considerably tiny and is generally associated with an deficient brain
Biology 22
Professor Clark
1october 2016
Christianson Syndrome
Abstract:
Christianson Syndrome is a super rare disease, it is a recessive X-linked disorder ,that usually affects the human body, specifically the nervous system. There are a lot of symptoms for this disorder like ataxia, seizures, epilepsy, severe mental retardation and microcephaly. Mutations on the SLC9A6 gene cause Christianson Syndrome, this gene is located on the X chromosome. This disorder is usually inherited, In males, by receiving just one of the mutated chromosomes. As a result of the rarity of inheriting two mutated X chromosomes of this disorder, The majority of the females, who were exposed to Christianson Syndrome become carriers. Even though …show more content…
There are several physical symptoms of Christianson disorder that include: a slim chest, an open mouth, lower body weight, a long and slender face, adducted thumbs, drooling, and deeply set eyes. People with Christianson syndrome usually have a joyful appearance, associated with constant smiling and uncontrollable laughing. ("Christianson Syndrome," n.d.). Albeit a significant number of these symptoms are like those of Down syndrome and Autism, the mental symptoms of this sickness are what make it so one of a kind and uncommon. These symptoms differ because of the way it is inherited; due to the recessive X-linked gene which causes this disorder, females would only be affected if both of their X chromosomes are mutated, which is especially uncommon. In any case, females who are carriers of Christianson Syndrome (who have only one affected X chromosomes) fluctuate from demonstrating no symptoms at all to showing extreme mental retardation. Males, likewise, need only one affected X chromosome to acquire the full scope of symptoms for this disorder (Kniffin, Hamosh, & McKusick, 2000). The symptoms involved include, but are not restricted to: microcephaly (a neurological illness in which an individual’s head is considerably tiny and is generally associated with an deficient brain