Patau syndrome is a syndrome caused by a chromosomal abnormality, where some or all of the cells of their body comprise additional genetic material in chromosome 13. The additional genetic material interrupts normal growth, causing multiple and complex organ defects.
This may happen either because every cell includes a whole additional copy of chromosome 13 (a disease called trisomy 13 or trisomy D), or as every cell includes an additional partial replica of the chromosome (i.e., Robertsonian translocation) or even due to mosaic Patau syndrome. Total trisomy 13 is caused by nondisjunction of chromosomes through meiosis (the mosaic type is due to nondisjunction through mitosis).
Like most nondisjunction ailments (for instance, Down syndrome and Edwards syndrome), the danger of the syndrome in the offspring increases with maternal age at pregnancy, together with approximately 31 years being the average. Patau syndrome affects somewhere between 1 in 10,000 and 1 at 21,700 live births.
Signs and symptoms of Patau Syndrome
Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:
- Nervous system
- Intellectual disability and motor disorder
- Microcephaly
- Holoprosencephaly (failure of the forebrain to divide properly).
- Structural eye defects, including microphthalmia, Peters’ anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
- Meningomyelocele (a spinal defect)
- Musculoskeletal and cutaneous
- Polydactyly (extra digits)
- Cyclopia
- Proboscis
- Congenital trigger digits
- Low-set ears
- 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
Causes of Patau Syndrome
Patau syndrome is the consequence of trisomy 13, meaning every cell in the human body has three copies of chromosome 13 rather than the normal two. A small fraction of cases happen when just a number of their human body’s cells have an additional backup; these cases are known as mosaic Patau.
Patau syndrome may also occur when a part of chromosome 13 becomes attached to another chromosome (translocated) before or at conception at a Robertsonian translocation. Affected individuals have two copies of chromosome 13, and extra material from chromosome 13 attached to a different chromosome. Having a translocation, the individual has a partial trisomy for chromosome 13 and frequently the physical signals of the syndrome differ in the normal Patau syndrome.
Most cases of Patau syndrome aren’t inherited but occur as random events during the formation of reproductive cells (sperm and eggs). An error in cell division called non-disjunction could lead to reproductive cells with an abnormal number of chromosomes. As an instance, an egg or semen cell can acquire an additional copy of the chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an additional chromosome 13 in each of the body’s cells. Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development.
Treatment
Medical management of children with Trisomy 13 is proposed on a case-by-case foundation and depends upon the individual conditions of the individual. Treatment of Patau syndrome concentrates on the distinct physical troubles with which every child has been born. Many babies have trouble surviving the first few days or months because of severe neurological problems or intricate heart flaws. Physical, occupational, and speech therapy can help people with Patau syndrome reach their full developmental potential. Surviving children are described as joyful and parents report that they improve their lives. The mentioned research consisted Edwards syndrome, which can be sometimes survivable past toddlerhood, together with Patau, thus the median age of 4 in the time of information collection.
