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21 Nov Genetica El sindrome de patau (trisomia 13) es una de las anomalias cromosomicas mas comunes, caracterizadas clinicamente por la. Os pacientes com síndrome de Patau (trissomia 13) apresentam várias anomalias craniofaciais, cardíacas, neurológicas e renais, com expectativa de vida bem. A trissomia do cromossomo 13, ou síndrome de Patau (SP), foi descrita inicialmente em por Patau et al(1). Desde então, houve inúmeros relatos da.

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SÍNDROME DE PATAU by Llael Leon on Prezi

The rate of threatened abortion 7. In turn, Baty et al 10 also found a case with previous birth of a child with trisomy 18 Edwards syndrome. In Mota et al 29the mean head circumference found in the general population was higher, However, as it can be seen in this study, the prenatal diagnosis of PS in our environment seems to be poor.

However, none of the mothers of the patients in our study with the description of preeclampsia were primiparous or had advanced age.

Patau syndrome

Because it refers to a very long period of timechanges in clinical practice in the period probably influenced the results of this investigation. Add a personal note: Check out this article to learn more or contact your system administrator.

The average reported for the general population ssindrome Brazilian studies is However, we highlight the fact that, in four of them The pathology of trisomy 13 syndrome. Taiwan J Obstet Gynecol.

Gestational, perinatal and family findings of patients with Patau syndrome

Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome translocated before or at conception in a Robertsonian translocation. The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers.

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As for obstetric ultrasound, we considered only those who held at least one exam after the 18th week of gestation. None of the patients underwent procedures such as amniocentesis for fetal karyotyping or had prenatal diagnosis of PS Table 1.

Only six patients were submitted sindrrome obstetric ultrasound and none had prenatal diagnosis of PS. This is due to the variability of the results seen in fetuses with Patau.

Since then, there have been numerous reports of the syndrome, as its prevalence is estimated at 1: Furthermore, this is a retrospective study, with data collection from medical records, subject, therefore, to a possible measurement bias. They reported maternal diseases in Among the remaining, 7.

Wikimedia Commons has media related to Patau syndrome. Anyhow, the understanding pwtau the findings on pregnancy, perinatal, and family of PS patients can lead to significant repercussions, especially regarding the decisions related to actions to be taken in the clinical management and genetic counseling of these patients and their families. Creating downloadable prezi, be patient. Only 6 patients in this study Copy code to clipboard. Please log in to add your comment. El tipo de tratamiento dependera de la condicion individual de cada paciente.

An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. These findings may have important implications on the management of patients. Thus, especially the realization of ultrasound in prenatal care and the lower frequency of prenatal diagnosis may be a consequence of these differences sincrome time. This finding was also observed by Rosa et al 27 in patients with trisomy 18 Edwards syndrome.

The median survival was 26 days and the earliest death occurred at 4 days, with two patients still living with more than 8 years old. In all these cases, the chromosome constitution of patients was full trisomy of chromosome 13, which correlated with maternal age and the phenomenon of non-disjunction of chromosomes, especially during meiosis I This finding is also in line with Taylor 7.


Medical management of children with Trisomy 13 is planned on sindome case-by-case basis and depends on the individual circumstances of the patient. Placental abnormalities and preeclampsia in trisomy 13 pregnancies.

Chromosome abnormalities Q90—Q99 In the population in general, Barros et al 28 found a slightly higher rate of This page was last edited on 30 Mayat Regarding parity, the number of pregnancies in this study ranged from 1 to Like all nondisjunction conditions such as Down syndrome and Edwards syndromethe risk of this syndrome in the offspring snidrome with maternal age at pregnancy, with about 31 years being the average.

See more popular or the latest prezis. As or the head circumference, the mean of this study was Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome.

There may have been suspected cases that have died before evaluation, due to its severity. Trisomy 13, or Patau syndrome PSwas first described in by Patau et al 1. Send the link below via email or IM. Sindromee, none of the patients in this sample were subjected to procedures such as amniocentesis for fetal karyotyping or had prenatal diagnosis of PS, suggesting a possible failure in our system.