Partial trisomy 13 has a variable phenotypic expression and could result from a parental reciprocal translocation, parental pericentric inversion or de novo direct duplication. Bilateral cleft lip and palate. Patau syndrome is only recognized as a condition that involves genetic abnormality or the inclusion of another chromosome, Trisomy 13. Patau syndrome. The patient was informed in detail, as well as receiving appropriate advice and recommendation. Patau syndrome (trisomy 13) is associated with severe intellectual disability and physical abnormalities in many parts of the body. Defining Patau Syndrome. Occurrence in live births is most often recorded as 1 in 9,500, however some estimate … Patau syndrome is a genetic disorder wherein a portion or the entire chromosome thirteen is present thrice in the body cells. But the condition is believed to be precipitated by the increased age of the mother. Cohen and Gorlin (1991) used the term pseudotrisomy 13 syndrome … Rather the karyotype of trisomy 13 shows an additional chromosome, that of chromosome 13. The infant had a bilateral cleft lip and palate (figure 1), became a karyotype that resulted with an extra copy of chromosome 13. They cited 2 similar reports (Young and Madders, 1987; Moerman and Fryns, 1988). (1989) reported a fetus with holoprosencephaly and polydactyly and a normal karyotype. Because holoprosencephaly and polydactyly are features of trisomy 13, Hewitt et al. Patau syndrome is also known as Trisomy 13 . PREVALENCE OF PATAU SYNDROME Patau Syndrome is the third most prevalent chromosomal trisomy to appear in lives births, behind Trisomy 21 (Down Syndrome) and Trisomy 18 (Edwards Syndrome). Hewitt et al. The Patau syndrome can be diagnosed through the evidence of the physical symptoms and presentation. Patau syndrome, also referred to as, 'Trisomy 13,' is a form of genetic disorder in which all or a portion of the person's chromosome thirteen appears three times instead of twice in the cells of their body. The extra portion of chromosome thirteen causes deficits in growth and development which leads to physical deformities in many parts of the body and extreme intellectual disability. Considering the karyotype result combined with the clinical features suggestive of Patau syndrome, case 2 is likely to have a partial trisomy 13; unfortunately the child's parents refused any other further investigations. (1989) suggested the designation pseudotrisomy 13. Figure 1. Trisomy 13, also called Patau syndrome, is a serious but rare chromosomal disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. Diagnosis .