Do you ever wonder how a particular gender is created? Is it God-gifted, or is it science? Well, it has something to do with science. Genetics plays a vital role in forming our personality and biological nature. One such important aspect in which genes are located is known as chromosomes. What happens when one chromosome gets extra in a human body? Indeed, it indicates a disastrous disorder. Want to know why? Then keep looking over the further article.
Genes, the sole and whole by which a human is made, are located in the chromosomes. A human being is consists of 46 chromosomes, comprising 23 pairs in each human body. The mother inherits the father's 23 chromosomes and the other 23 from the mother. In continuation, two are the sex chromosomes, which determine the sex of the human. Generally, an average female inherits two X chromosomes, and a male has one X and one Y chromosome. Each chromosome is produced of a protein and a single molecule of DNA. For a healthy human, the right proportion of chromosomes is essential, i.e., neither one extra nor one less. Unfortunately, one syndrome where the 15th chromosome contains one additional chromosome is called isodicentric 15. This text will give an idea of the same.
Affecting different parts of the body, Isodicentric 15 is a chromosome abnormality. As the name suggests, people with this disorder have an extra chromosome made of two pieces of chromosome 15 stuck end-to-end. Such a syndrome can occur without any family history of the patient. As humans have only 23 pairs of chromosomes formulating a proper body function, people with Isodicentric have one extra chromosome in the 15th pair causing various disabilities in a person. Chromosome 15 constitutes more than 102 million DNA building blocks, representing more than 3% of the total DNA.
It is associated with significant clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction and impairment, autism spectrum disorders, and seizure. Delayed development can become a massive problem for the underlying condition.
Due to one extra chromosome, the body can undergo various problems causing harmful disorders. Such illnesses and issues are described in this text.
Acute Promyelocytic Leukemia − A type of blood cancer learned as acute promyelocytic leukemia is induced by a rearrangement of genetic material between chromosomes 15 and 17. This translocation, composed of t(15;17), fuses part of the PML gene from chromosome 15 with the region of the RARA gene from chromosome 17. Hence, acute promyelocytic leukemia is increased in a type of white blood cell known as promyelocytes. Its prevalence can reach 600-700 people in the United States. This variant is obtained during a person's lifetime and is currently only in specific cells. This type of hereditary change, a somatic variant, is not inherited from generation.
Angelman Syndrome −It is when genetic material from the 15th pair of chromosomes loses a genetic activity. This syndrome is not detectable most of the time unless the patient starts maturing for the 12months or so. A few symptoms include a lack of babbling or crawling. A complex syndrome generally affects the nervous system, leading to delays in development, cognitive impairment, and recurrent attacks. Fortunately, with age, patients see an improvement in the disorder as sleeping pattern improves and they evolve less equitable.
Prader-Willi Syndrome − It is caused by the loss of the active gene in the chromosome 15 region. People can retain either Prader-Willi syndrome or Angelman syndrome, but they generally cannot have both. A genetic disorder leads to shortness of height, obesity, and delayed intellectual abilities. Prader-Willi syndrome is a genetic disorder usually provoked by the omission of a part of chromosome 15 passed down by the father.
Sensorineural Deafness and Male Infertility − A loss of genetic material on the q arm of chromosome 15 causes sensorineural deafness and male infertility. Deleting many genes in this area is linked to sensorineural deafness and male infertility symptoms. The extent of the deletion differs from person to person. Researchers discovered that the deletion of a specific gene causes hearing loss in afflicted individuals on chromosome 15, STRC. The deletion of another gene, CATSPER2, in the same area of chromosome 15 is responsible for sperm abnormalities, which result in the inability of afflicted individuals to father children (infertility). Researchers are investigating how the deletion of additional genes in the deleted area impacts persons who have sensorineural deafness and male infertility.
Isodicentric 15 is caused mainly by the egg cells. Surprisingly, this disorder has no early family history of family members with chromosomal abnormalities, unlike other conditions, which are primarily caused or inherited through generations. Therefore, it is caused by chance in a patient. Further, research does not correlate with the parents' lifestyle or the environmental factors leading to the disorder.
Thereby, only biological causes lead to Isodicentric 15. A patient with IDIC (15) has additional congenital material formulated from chromosome 15. The material usually lives off the normal pair of chromosome 15, and a small extra chromosome 15 called the 'marker.' The characteristic usually exists of 2 copies of the lid part of the chromosome that is reflected and folded. Because of this agreement, idic (15) used to be guided to as "inverted duplication chromosome 15."
Unfortunately, currently, there is no single evidence that supports the treatment of Isodicentric 15. As the cause of the disorder stands complete biological, its treatment becomes problematic to identify and follow. Nevertheless, certain therapies and professionals are obtainable for aid. Apart from this, a patient needs to be detailed and stay cautious about certain medications that may result in side effects and may harm the underlying disorder more effectively. Therefore, a professional must induce and guide any new medications or drugs.
A disorder that is caused due to abnormality in chromosomes leading to one extra genetic material in the 15th chromosome. Although the harshness of the condition and the associated elements vary from person to person, common signs and symptoms include poor muscle tone in babies, developmental delay, mild to severe intellectual disability, delayed or absent speech, behavioral abnormalities, and attacks.
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