10 Chromosomal Disorders You May Not Know About


10 Chromosomal Disorders You May Not Know About
10 Chromosomal Disorders You May Not Know About
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Down’s syndrome is a common type of genetic disorder. People with the condition have one extra chromosome. But there are many other genetic disorders you have probably never heard of. For instance, you may ask what is triple X syndrome? This article gives information on triple X syndrome and other uncommon genetic diseases.

  1. Williams Syndrome

It occurs due to the absence of genetic materials from parts of the chromosome 7 long arm. The region contains more than 25 genes. Studies have helped identify a few specific genes related to the Williams syndrome. But the relation between the deleted region’s genes and the condition’s symptoms is unknown.

  1. Triple X Syndrome

The condition is predominant in women. Triple X syndrome refers to having one extra X chromosome in the female cells. Women with the disease are usually taller than females in the same age group. The condition leads to various learning disabilities. Delayed language and speech development are also common in women with triple X syndrome.

  1. Jacobsen Syndrome

The condition is also called 11q deletion disorder. It occurs due to a loss of genetic material at the end of chromosome 11 long arm. The symptoms of this condition vary from one affected person to another. But delayed developments in motor skills and cognitive issues are common in people with this syndrome. Behavioral problems and cognitive impairments are also common in people with this condition. 

  1. Wolf-Hirschhorn Syndrome

It occurs due to the deletion of the chromosome 4 distal short arm. The condition affects several body parts. Some distinctive facial features like a high forehead and a broad nasal bridge are common in people with this condition. The eyes of people with this disorder are protruding and wide-spaced. 

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Some common symptoms include a short distance between the upper lip and the nose, ill-formed ears with small holes, and a small chin. People with the Wolf-Hirschhorn syndrome also suffer from delayed growth, seizures, and intellectual disabilities.

  1. Turner Syndrome

The condition occurs due to the absence of one of the two X chromosomes in females. Sometimes one of the X chromosomes might also be incomplete. Gonadal dysgenesis leads to ovarian failure and poor sexual development. Infertility is a common issue associated with the condition. Women with Turner syndrome also have short stature.

  1. Angelman Syndrome

Angelman syndrome causes the paternal copy of chromosome 15 to be silenced or imprinted. It occurs due to the inactivation or deletion of genes on the maternal copy of chromosome 15. The phenomenon is known as genomic imprinting. The condition leads to developmental and intellectual delays. Seizures, jerky movements, and sleep disturbances are some symptoms of the disorder. But people with this condition usually have a happy demeanour and smile or laugh quite often.

  1. Cri du Chat Syndrome

It occurs due to missing elements from chromosome 5. One of the most prominent symptoms of this syndrome is a high-pitched cry. You will also notice the eyes of people with this syndrome slanting downward. Partial fusion of toes and fingers is also a common symptom. Like most other genetic disorders, this condition also causes delays in motor skills development.

  1. Trisomy 16 Syndrome

Full trisomy 16 happens due to three copies of chromosome 16 instead of two. It is a prevalent cause of miscarriage during the first trimester. Another form of trisomy 16 is mosaic trisomy 16. In this condition, chromosome 16 is found in only some cells. The common symptoms of mosaic trisomy 16 include congenital heart defects and intrauterine growth retardation. 

  1. Trisomy 13 Syndrome
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The condition is also known as Patau syndrome. Instead of the usual two, people with this syndrome have three copies of chromosome 13 genetic materials. Sometimes the condition occurs due to a third chromosome 13 in all cells. 

Trisomy 13 mosaicism occurs due to three chromosomes 13 in some cells. Partial trisomy 13 occurs due to the presence of a part of chromosome 13 in the cells. Some symptoms include spinal cord defects, heart issues, an opening in the lip, and extra fingers and toes. 

  1. Cat Eye Syndrome

Anyone with this condition will have the short arm or 22p of chromosome 22 three or four times. They will also have a small region of the long arm or 22q of chromosome 22 present more than the usual two times. The symptoms caused by this condition include mild mental deficiency and mild growth delay. It also causes the heart, kidneys, and other body parts to be formed poorly.

Closing Thoughts

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Most genetic disorders cause developmental and cognitive issues. If your child has any of these syndromes, provide them with the extra care and support they need.


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