Patau syndrome

Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/or

Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on chromosome 13. An extra copy of chromosome 13 causes the majority of cases. Some cases are caused by a Robertsonian translocation between chromosome 13 and other autosomes such as chromosomes 15, 21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most common autosomal trisomy, with an incidence of 1 per 10,000" (Bishara & Clericuzio, 2008, p. 30). It is comprised mainly of defects of the

Stelluto Silvestri Biology 21 February 2017 Patau Syndrome is a condition which a person has an extra Chromosome 13 or because each cell contains an extra partial copy of the chromosome. A website states, “Patau Syndrome, or also known as Trisomy 13, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of of the body” ("Trisomy 13 (Patau Syndrome)” 2016). Individuals with Patau Syndrome often have heart defects, brain or spinal cord

Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159). Alteration in the number of chromosomes can affect the health of an individual. One good example of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000 newborns and affects female slightly more than the male. Babies who are born with this disorder have many abnormalities

Trisomy 13, also known as Patau Syndrome, is a genetic disorder occurring in about 1 in 12,000 to 16,000 newborns. Trisomy 13 is the second most common trisomy, behind Trisomy 21, or Down Syndrome. Patau Syndrome is caused when a zygote develops with three copies of chromosome 13 instead of the normal two copies. Although Trisomy 13 is usually the result of three copies of chromosome 13, it can also be caused by part of an extra chromosome 13 (partial trisomy 13), or the presence of extra chromosome

Trisomy 13 and 18 Trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) are developmental abnormalities that are present at birth. In these conditions, there is an extra chromosome (trisomy) at chromosome number 13 or 18. Chromosomes are structures inside cells that are made of genes. They carry the genetic information about how the body develops. Normal cells have 23 pairs of chromosomes in each cell. Having an extra chromosome in all or some cells (mosaicism) changes the way these cells

The article is titled “Communication Modality Sampling for a Toddler with Angelman Syndrome” by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three modes of communication, vocal, gestural, and graphic, with a young child with Angelman syndrome. The researchers investigated which mode of communication would be the most effective and efficient for the child. Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder that affects

Epidemiology: Obstructive sleep apnea is becoming more prevalent in adults and children in our society. Obstructive sleep apnea is undiagnosed mostly in women being 92% and 80% in men. The estimated prevalence in women is 2% and in men is 4%. A study was done by the University of Pennsylvania revealing that the prevalence in women was 4% and 9% for men. Another study called The Wisconsin Cohrt study showed that people who are 30 to 60 years old, the prevalence is 9-24% for men and 4-9% for women

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion

Brownsville, she was sent to Driscoll Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital, medical doctors diagnosed Janelle with Prader-Willi Syndrome. As you can imagine, so many questions and thoughts went through her parent’s minds. To start, what is Prader-Willi Syndrome (PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and