PATAU SYNDROME

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Description

Scientific background

The incidence of P├Ątau syndrome is estimated at an average of 1:5,000 newborns. Free trisomy13 is detected in 75%, mosaic trisomy in 5%, and unbalanced translocation in 20%. The characteristic external malformations include a mostly bilateral cleft ligament, various eye defects (micro- or anophthalmia, coloboma), microcephaly, hexadactyly, ear dysplasia, scalp defects, and omphalocele. Organ malformations include heart defects, cystic kidneys, and CNS anomalies such as arhinecephaly or holoprosencephaly. Psychomotor development is severely impaired. About 50% of the patients die within the first month of life, more than 90% within the first year of life.

 

References

Vendola C et al. 2010, Am J Med Genet 152A:360 / Wyllie et al. 1994, Arch Dis Child 71:343 / Baty et al. 1994, Am J Med Genet 49:189 / Fujinaga et al. 1990, Teratology 41:233 / Hassold et al. 1987, J Med Genet 24:725

GENES

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ASSOCIATED TESTS

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