SINDROME DE PATAU PDF

The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. In , Ballantyne was the first to put forward a syndrome characterized by maternal edema in pregnancy associated with fetal and placental hydrops, due to rhesus Rh isoimmunization. As it is extremely uncommon and frequently underdiagnosed, the incidence of mirror syndrome is unknown, with less than cases reported worldwide.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations holoprosencephaly , facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations cardiopathy and severe psychomotor retardation.

The neurological manifestations are severe with hypotonia and hyporeactivity with an apparent lack of awareness of surroundings. In rare cases, the syndrome is caused by reciprocal translocation between chromosome 13 and a nonacrocentric chromosome.

Mosaic trisomy 13 in which there is both trisomic and normal cell types has been reported in a few patients with a clinical picture that varies between a normal phenotype and that of classical trisomy 13 according to the number of trisomic cells present in the tissues.

Trisomy 13 may be suspected during pregnancy from ultrasound findings holoprosencephaly, polydactyly and can be confirmed by karyotype analysis of the fetus. However, in families in which trisomy 13 is associated with translocation Robertsonian or balanced the risk of recurrence is higher if one of the parents is a carrier of a balanced translocation.

Prolonged survival in some cases into adulthood has been reported and is more common in cases of mosaic or partial trisomy and in the absence of severe brain malformations. In general, non-mosaic patients develop only limited autonomy absence of speech and ambulation. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations holoprosencephaly , facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations cardiopathy and severe psychomotor retardation.

Antenatal diagnosis Trisomy 13 may be suspected during pregnancy from ultrasound findings holoprosencephaly, polydactyly and can be confirmed by karyotype analysis of the fetus. Management and treatment Management is supportive only. Detailed information Article for general public Svenska Professionals Summary information Greek , pdf. Additional information Further information on this disease Classification s 7 Gene s 0 Disability Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests Patient organisations 40 Orphan designation s and orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Patau syndrome

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome The extra genetic material disrupts normal development, causing multiple and complex organ defects. 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 [1] , or because each cell contains an extra partial copy of the chromosome or because there are two different lines of cells - one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome- mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis the mosaic form is caused by nondisjunction during mitosis. Like all nondisjunction conditions such as Down syndrome and Edwards syndrome , the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.

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