Patau syndrome
Patau syndrome | |
---|---|
Other names | Trisomy 13, trisomy D, T13 Supportive care |
Prognosis | Poor |
Named after | Klaus Patau |
Patau syndrome is a
This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13
Like all
Signs and symptoms
Of those fetuses that do survive to gestation and birth, common abnormalities may include:[citation needed]
- Nervous system
- Intellectual disability and motor disorder
- Microcephaly
- Holoprosencephaly (failure of the forebrain to divide properly) and associated facial deformities such as cyclopia
- Structural eye defects, including cortical visual loss, and optic nerve hypoplasia
- Meningomyelocele (a spinaldefect)
- Musculoskeletal and cutaneous
- Polydactyly (extra digits)
- Proboscis
- Congenital trigger digits
- Low-set ears[4]
- Prominent heel
- Deformed feet known as rocker-bottom feet
- Omphalocele (abdominal defect)
- Abnormal palm pattern
- Overlapping of fingers over thumb
- Cutis aplasia(missing portion of the skin/hair)
- Cleft palate
- Urogenital
- Abnormal genitalia
- Kidney defects
- Abnormal
- Other
- Patent Ductus Arteriosus)
- Dextrocardia
- Single umbilical artery[5]
Causes
Patau syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. A small percentage of cases occur when only some of the body's cells have an extra copy; such cases are called mosaic trisomy 13.[citation needed]
Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception in a Robertsonian translocation. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.[citation needed]
Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called
Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 13. Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.[citation needed]
Recurrence risk
Unless one of the parents is a carrier of a translocation, the chances of a couple having another trisomy 13 affected child is less than 1%, below that of Down syndrome.[citation needed]
Diagnosis
Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy 13. While many of the physical findings are similar to Edwards syndrome, there are a few unique traits, such as polydactyly. However, unlike
Treatment
Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex
Prognosis
Approximately 90% of infants with Patau syndrome die within the first year of life.[8] Those children who do survive past 1 year of life are typically severely disabled with intellectual disability, seizures, and psychomotor issues. Children with the mosaic variation are usually affected to a lesser extent.[9] In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively, including those who underwent aggressive surgical intervention.[10]
History
Trisomy 13 was first observed by Thomas Bartholin in 1657,[11][12] but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau and Dr. Eeva Therman in 1960.[13] The disease is named in Patau's honor.
In England and Wales during 2008–09, there were 172 diagnoses of Patau syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18.[14]
References
- ^ a b "Trisomy 13: description in brief". GOV.UK. December 2020.
- ^ "Prevalence and Incidence of Patau syndrome". Diseases Center-Patau Syndrome. Adviware Pty Ltd. 2008-02-04. Retrieved 2008-02-17.
mean maternal age for this abnormality is about 31 years
- ^ About.com > Patau Syndrome (Trisomy 13) Archived 2016-03-04 at the Wayback Machine From Krissi Danielsson. Updated June 10, 2009
- ISBN 978-0-7817-4999-2. Retrieved 13 April 2010.
- ^ "Trisomy 13: MedlinePlus Medical Encyclopedia". Retrieved 2010-04-12.
- ^ Callahan, Tamara L., and Aaron B. Caughey. Blueprints Obstetrics & Gynecology. Baltimore, MD: Lippincott Williams & Wilkins, 2013.
- S2CID 5777839.
- PMID 30855930.
- ^ "Patau's Syndrome (Trisomy 13)". Archived from the original on 14 July 2014. Retrieved 3 July 2014.
- PMID 27458947. Retrieved 3 December 2016.
- Who Named It?
- ^ Bartholinus, Thomas (1656). Historiarum anatomicarum rariorum centuria III et IV. Ejusdem cura accessere observationes anatomicae. The Hague: Vlacq. p. 95.
- PMID 14430807.
- ^ "National Down Syndrome Cytogenetic Register Annual Reports 2008/09". Archived from the original on 2010-04-15.
External links
- Trisomy 13 at WebMD