Chromosome

Meckel-Gruber Syndrome Meckel-Gruber Syndrome is a Fatal congenital autosomal recessive disease which is named after the German anatomist Johann Friedrich Meckel and the German physician Georg Gruber. This illness infects 1 in 13,250 to 1 in 140,000 people around the world; however, it’s more common in some regions. For instance, it was reported that Meckel syndrome has an incidence of 1 per 3,500 live births with a carrier rate of 1 in 30 in Bedouins in Kuwait (Teebi et al.1992). This…

that will be explored regarding the hypothesis and the findings is “A Gene Mystery: How Are Rats with No Y Chromosome Born Male?” By Steph Yin. This article was published by the New York Time on May 12, 2017. The main topic of this article is the endangered Amami spiny rats which are found in Japan. These rats are the focus of the experiment because these rats have lost their “Y chromosome and as well have lost the gene SRY (which is considered the master switch of male anatomical development in…

gene located on the long arm of chromosome 12 at position 21.32, known for making a protein that is present in many types of cells but not well understood. Studies suggest that it plays an important role in the development and activity of centrosomes and cilia. The IQCB1 gene located on the long arm of chromosome 3 at position 13.33, makes a protein used by the primary cilia of renal cells and photoreceptor cells. The NPHP1 gene is located on the long arm of chromosome 2 at position 13, provides…

“People with autism spectrum disorder (ASD) demonstrate characteristics of impaired social interaction and communication abilities. These clients are unable to initiate conversations and fail to understand or observe nonverbal behaviors. Another identifier for someone with ASD is their use of repetitive and restrictive behaviors. A client with ASD will repeat the question being asked rather than answer it. The client will parrot or repeat one word or phrase that is spoken to them, also known as…

and partners, the cri du chat syndrome is caused by a specific alteration of genetic material: the loss of a part of the filiform structures in the nucleus of the cell that carry the genetic material (one of the arms of one of the chromosomes: the short arm of chromosome 5). This genetic modification is usually occur spontaneously after fertilization in cell division of the egg, that is to say, as a spontaneous mutation. The cri du chat…

chromosomal condition that can’t be cured. It occurs when a child is born with a partial or full copy of chromosome 21. This extra genetic material changes learning and development courses. Some ways to identify if a child has it are: a single,…

Aneuploidy is an abnormal number of chromosomes. When a cell is missing a chromosome or has an extra copy, genetic information becomes altered and abnormalities occur. An example of a human aneuploidy is Cat Eye Syndrome aka Schmid –Fraccaro Syndrome. Cat eye syndrome is a genetic disorder caused duplicated chromosome material of Chromosome 22. The top half and a small section of the bottom half are present three or four times in the cells of the body rather than two. Symptoms associated…

COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair. What are the symptoms? Fever Night Sweats Swollen lymph nodes Weight loss Fever Tiredness Distortion of facial bones COLUMN 6: Back of Brochure What kind of assistance do you need? Watchful waiting…

caused by abnormalities in one of the X-chromosomes. While turner syndrome’s symptoms may be mistaken at birth. However, the condition often isn’t diagnose until puberty. Although, with all other diseases most people don’t understand the dieses. So it goes untreated and the sighs are not taken seriously. Turner syndrome is a genetic cause. Females have two X-chromosomes. While the male have Y and X-Chromosomes. When a baby is born they are born with 23 chromosomes. To determine the gender of…

weaken the musculoskeletal system. Muscle Dystrophies are characterized by muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Duchenne Muscular Dystrophy is one of many types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls with a 1 in 50million chance. It is caused by a small mutation in the DMD gene and it is inherited…