Symptoms
Newborns with Patau syndrome share common physical characteristics: * Extra fingers or toes (polydactyly) * Deformed feet, known as rocker-bottom feet * Neurological problems such as small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency * Facial defects such as small eyes (microphthalmia), absent or malformed nose, cleft lip and/or cleft palate * Heart defects (80% of individuals) * Kidney defects
The severity and symptoms of Patau syndrome vary with the type of chromosomal anomaly, from extremely serious conditions to nearly normal appearance and functioning.
Heart defects; incomplete brain development; unusual facial features; extra fingers and toes; abnormal genitalia; spinal defects; seizures; gastrointestinal hernias; and mental retardation.
Neither. Patau syndrome isn't gender-linked. In fact, the majority of the time it isn't even inherited directly from the parents. Patau syndrome is the event where an individual has an extra copy of the 13th chromosome. It most often occurs because of random error in meiosis.
Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.
NO, there is not a cure for Patau Syndrome. However, in some cases of Patau Syndrome - Trisomy 13, you can use medical intervention to treat the specific medical abnormalities that come with this genetic proflie. I have a child who is living with Patau Syndrome and now 8 yrs old. There is not a cure, but there are children who are living (80 + survivor stories) and doing rather well. You will also read many Treasured Memory stories where the families tell of the precious and brief time in some cases these families had with their children. Each child, although they have the extra 13th chromosome, present the anomalies in a unique manner. The babies and children should be treated on a case by case basis. If you want to know more about Patau Syndrome and the families who know this journey. Go to Living with Trisomy 13 http://www.livingwithtrisomy13.org You will find a wealth of family stories, family support resources Blessings, ThereseAnn, mom to Natalia full trisomy 13.
These are called fatal genetic mutations. Same examples are: Tay-Sachs disease, Neimann-Pick disease, Trisomy 18 and Trisomy 13 are "Edwards Syndrome" and "Patau Syndrome," respectively and Cystic fibrosis
Generally speaking, a syndrome is a condition that has a specific array of symptoms. According to the Encyclopedia of Phobias, Fears, and Anxieties (Second Edition), a syndrome is "a group of symptoms that occur together that constitute a recognizable condition", and that "'syndrome' is less specific than 'disorder' or 'disease', which generally imply a specific cause or disease process".
Patau syndrome was first described by Dr. Klaus Patau in 1960.
nondisjunction
Named for Dr. Klaus Patau, who reported the syndrome in 1960. It is sometimes called Bartholin-Patau syndrome, named in part for Thomas Bartholin, who described an infant with the syndrome in 1656.
In a few rare cases Patau syndrome may coexist with Klinefelter's syndrome or other chromosomal abnormalities.
in Patau there is an extra chromosome in chromosome 13, in Edwars it the extra chromosome is in chromosome 18
I have it ;)
Patau syndrome occurs in approximately one in 8,000-12,000 live births in the United States.
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
As appears to be the case in all trisonomies, the risks of Patau syndrome seem to increase with the mother's age, particularly if she is over 30 when pregnant.
Neither. Patau syndrome isn't gender-linked. In fact, the majority of the time it isn't even inherited directly from the parents. Patau syndrome is the event where an individual has an extra copy of the 13th chromosome. It most often occurs because of random error in meiosis.
James Watson And Frncis Crick
The diagnosis of Patau syndrome is confirmed by the presence of three, rather than the normal two, copies of the thirteenth largest chromosome.