6 Genetic Abnormalities We Rarely Meet

6 Genetic Abnormalities We Rarely Meet - Humans were created different from one another. There is no exact match on this earth. Even twins certainly have differences. Of the billions of people on earth, some are born with genetic mutations.

Genetic mutations are genetic changes that occur from the level of genes to chromosomes. These genetic changes can cause physiological and psychological changes in humans. Humans can be born with different conditions than humans in general.

So, what are the genetic disorders that are rarely experienced by humans? How does the change that results from the disorder? Come, see the following review.

1. Klinefelter Syndrome
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Quoted from the Genetic and Rare Disease Information Center, this syndrome is caused by abnormalities in the sex chromosomes. Normally men have a chromosome pattern of 46 A + XY, but in people with Klinefelter's syndrome, the chromosome pattern becomes 46 A + XXY. The addition of the X chromosome is what causes sexual development disorders in patients.

Characteristics of people with Klinefelter's syndrome are undeveloped muscles, minimal hair growth, wider pelvis, gynecomastia or breast growth, small testicular size, and impaired body development.

2. Patau Syndrome


Patau's syndrome is a genetic disorder that occurs in infants. This syndrome is caused by an abnormality on chromosome number 13. Patients with Patau syndrome have chromosome number 13 as many as 3 copies, even though normally only consists of 2 copies.

Patients with Patau's syndrome have characteristics of cleft lip, spinal disorders, the number of fingers and toes exceeds normal (polydactyl), organ disorders, to mental retardation.

3. Pfeiffer syndrome

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Quoted from the Genetic Home Reference, Pfeiffer syndrome is a rare genetic disorder that occurs in about 1 in 100,000 births. This syndrome occurs due to mutations in the FGFR1 gene.

These mutations cause abnormal skull formation. Abnormalities of skull bones can cause changes in the shape of the face in patients.

In fact, fingers and toes may also be affected. The characteristics of sufferers of Pfeiffer's syndrome are protruding eyes such as going out of the lid, impaired brain growth, breathing difficulties, organ, and bone disorders. 

4. Beare-Stevenson syndrome

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Quoted from the Genetic Home Reference, Beare-Stevenson syndrome occurs in about 20 people in the world. This syndrome is caused by a mutation in the FGFR2 gene. Mutations in these genes result in abnormalities in the skin and the formation of skull bones that affect the shape of the head and face.

Patients with this syndrome will experience abnormal head growth, wrinkled skin, and wrinkles on the face and some other body parts, bulging and wide eyes, and ear disorders.

Also, sufferers will experience intellectual disability due to stunted brain growth. Complications caused by this syndrome can be life-threatening in early childhood if not treated promptly.

5. Turner syndrome



Quoted from the Genetic and Rare Disease Information Center, Turner's syndrome is a genetic disorder that occurs in women. This syndrome is caused due to a lack of X sex chromosomes.

Normal women have 2 X chromosomes in their body, whereas people with Turner syndrome only have 1 X chromosome. In general, this syndrome can be detected before birth occurs.

One characteristic of people with Turner syndrome is having a winged neck. Also, people with Turner syndrome will experience failure of egg maturation and abnormal organ function. These conditions cause infertility or infertility. 

6. Progeria Syndrome


Quoted from the Progeria Research Foundation, progeria is a genetic disorder that occurs in about 1 in 4-8 million babies. This syndrome is caused by the spontaneous mutation of the LMNA or Lamin A gene at conception. This condition causes premature aging in children. Symptoms of premature aging will only appear when children aged 18-24 months.

People with Progeria syndrome will experience growth disorders, premature aging, loss of body fat, hair loss, and pelvic dislocation. Also, sufferers will experience cardiovascular disorders and atherosclerosis at around the age of 13 years. In general, patients can survive in the age range of 40-50 years.

Well, that's a genetic disorder that is very rarely experienced by humans. Remain grateful for whatever God has given you. And don't forget when you meet people who have certain syndromes, still support them, yes!
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