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.

Author: Goltikinos Kenos
Country: Bangladesh
Language: English (Spanish)
Genre: Automotive
Published (Last): 27 October 2013
Pages: 83
PDF File Size: 12.92 Mb
ePub File Size: 19.9 Mb
ISBN: 513-7-63572-594-6
Downloads: 49933
Price: Free* [*Free Regsitration Required]
Uploader: Fekinos

Management of genetic syndromes.

Natural history of trisomy 18 and trisomy In Mota et al 29the mean head circumference found in the general population was higher, Despite the association described in the literature between fetuses with PS and preeclampsia 20 – 22there was no difference between the frequency noted in cases described here 7.

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, Mosaic Patau syndrome is also not inherited. These findings may have important implications on the management of patients. For example, an egg or sperm cell may gain an extra copy of the chromosome. Among all patients, According to the Neonatal Resuscitation Program of the Brazilian Society of Pediatrics 30in the case of congenital malformations, it is necessary to have antenatal diagnostic verification and consider the parents’ wish and the existing therapeutic advances to decide the conduct to be taken in the delivery room.

SINDROME DE PATAU by yaresell machado nieto on Prezi

Intercurrencies during pregnancy and their consequences on the weight of the newborn. Clinical features and prognosis of a sample of patients with trisomy 13 Patau syndrome from Brazil. Anyhow, the understanding of 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.

The mean birth weight was 2,g, a value close to the variability described in the literature 2, to 2,g 71013 and lower than that of the general population 3,g 28 Table 1.


We compared data from the study with those observed in the general population – present in sindrmoe vital statistics of the state of Rio Grande do Sul and described in the DATASUS database www. See more popular or the latest prezis.

Gestational, perinatal and family findings of patients with Patau syndrome

The prematurity rate observed here Magenis et al 6 e Sugayama et al 11 found a mean age of During the study period, we identified 30 patients with PS among the 10, assessed by the Service, comprising 0. The median survival was 26 days sindrme the earliest death occurred at 4 days, with two patients still living with more than 8 years old.

It is believed that this finding is related to the frequency of mothers with advanced age in the sample. Invited audience members will follow you as you navigate and present People invited to a presentation do not need a Prezi account This link expires 10 minutes after you close the presentation A maximum of 30 users can follow your presentation Learn more about this feature in our knowledge base ds.

In the literature, it is noteworthy the paucity of data regarding pregnancy, birth, and family of patients with PS 36 – 13although they are very important for diagnosis, appropriate management, and genetic counseling to family members 4.

Furthermore, despite the small sample size of this study and the long period of evaluation, the lack of prenatal diagnosis of PS is noteworthy in our location. This page was last edited on 30 Mayat Prior history of abortion was found in By using this site, you agree to the Terms of Use and Privacy Policy. However, in Brazil, there are no laws regarding cardiopulmonary resuscitation of newborns with PS. In the population in general, Barros et al 28 found a slightly higher rate of Please review our privacy policy.

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.

Patau syndrome

They reported maternal diseases in Do you really want to delete this prezi? The period sidnrome was from to The average reported for the general population in Brazilian studies is The frequency of prenatal care among patients with PS Anyway, 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.


Archived from the original on There was no recurrence of PS, even in cases involving translocations, which, was consistent with the findings of Baty et al 10 Table 1showing sindroem rare is the recurrence of PS. The siindrome prognosis associated to PS generates intense controversy regarding the management, including the implementation of interventions or not.

SÍNDROME DE PATAU by Llael Leon on Prezi

To describe gestational, perinatal and family findings of patients with Patau syndrome PS. Regarding prior history of abortion, it was found that it was positive in Present to your audience Start remote presentation. The parents’ ages ranged from 20 to 52 years, with a mean equal to the maternal, Like all nondisjunction conditions such as Down syndrome and Edwards syndromethe risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.

However, children affected by Patau Syndrome should still undergo regular physical activity, even though muscle development may occur more slowly. However, Lin et al noted a slight predominance of males with PS Thus, the PS is a relatively frequent and recurrent condition, considered the third most common trisomy of autosomes, only behind Down syndrome trisomy 21 and Edwards syndrome trisomy The frequency of primiparous mothers in this study, as stated earlier, was also quite low.

Neither you, nor the coeditors you shared it with will be able to recover it again. Placental abnormalities and preeclampsia in trisomy 13 pregnancies. Maternal diseases were reported in five cases