Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Treatment Involved in Patau's Syndrome

Joey Yanson^{* *}Correspondence: Dr. Joey Yanson, Department of Medicine, University of Houston, Texas, United States, Email:

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Description

Patau's syndrome is a severe rare genetic disorder in which the body cells contain an extra copy of chromosome 13. Another name for it is trisomy 13. The genetics visitors acquire from their parents are carried by 23 pairs of chromosomes that are typically found in each cell. But chromosome 13 is present in three rather than two copies in infants with Patau's syndrome. This gravely impairs the course of normal development and possibly leads to miscarriage, stillbirth, or the infant passing away soon after birth. Low birth weight and sluggish womb growth are only two of the significant health issues that Patau's syndrome babies experience.

Finding out that newborn child has trisomy 13, often known as Patau Syndrome, can be incredibly stressful. Children undoubtedly have a lot of inquiries about the root of the problem and whether it can be curable. A chromosomal aberration known as Patau syndrome is characterized by the presence of additional genetic material from chromosome 13 in some or all of the body's cells. The excess genetic material interferes with normal development and results in a variety of intricate organ abnormalities.

This can happen when there are two separate lines of cells, one healthy with the proper amount of chromosomes 13 and the other with an additional copy of the Patau syndrome chromosome mosaic, or when each cell includes one whole or one partial additional copy of the chromosome.

Symptoms of patau’s syndrome

• Head size that is smaller than usual

• Abnormalities in the brain and spinal cord; decreased space between the eyes; hernias such umbilical or inguinal hernias

Causes of patau's syndrome

Trisomy 13, or having three copies of chromosome 13 instead of the normal two, is the cause of Patau syndrome. Mosaic trisomy 13 refers to a small fraction of situations in which just some of the body's cells have an extra copy.

Patau syndrome can also develop when a portion of chromosome 13 joins another chromosome prior to or during pregnancy. Affected individuals have two copies of chromosome 13 and additional chromosomal material that is joined to another chromosome. Because of the partial trisomy for chromosome 13 caused by a translocation, the physical symptoms of the syndrome frequently diverge from those of the usual Patau syndrome.

This can result in Patau's syndrome, which can be hereditary. Additional details on chromosomal diseases can be found at Genetic Alliance UK. Only some cells carry the extra copy of chromosome 13 in 1 additional out of every 20 instances. Trisomy 13 mosaicism is what this is. Sometimes only a portion of chromosome 13 is extra. Mosaicism and partial trisomy both have less severe signs and characteristics than simple trisomy 13, which leads to more newborns surviving longer.

Treatment

Patau's condition has no known treatment in place. Since it cannot be cured, the baby's symptoms are typically used to guide treatment. The hospital's medical staff works to ensure that the infant can eat and experience as less pain as possible. Due to its aberrant growth, the newborn will frequently be unable to respond to typical stimuli. Parents are given expectations-related counseling as part of the baby's care. A support system is crucial to assist the new parents to cope with the sobering reality that, the lifespan of their baby is only one year, even if the baby survives first week in the hospital.

Not all cases of trisomy 13 are deadly. However, if there are no critical health issues that pose a threat to the baby's life; doctors cannot estimate how long they may live. Trisomy 13 newborns, however, hardly survive into their adolescent years.