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Patau syndrome
85%
47/55
Edwards syndrome
4%
2/55
Down syndrome
0%
0/55
Turner syndrome
7%
4/55
Klinefelter syndrome
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The karyotype demonstrates a trisomy of chromosome 13. The fetus has Patau syndrome. Patau syndrome is due to meiotic nondisjunction resulting in trisomy of chromosome 13. Infants present with mental retardation and a unique physical appearance: microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, and polydactyly. They may have congenital heart disease such as a VSD and may also have cystic kidneys. Infants with Patau syndrome usually die before the age of 1. Plaiasu et al. review several cases of Patau syndrome. One case is of a 30-year-old woman who had 2 prior first trimester miscarriages. She gave birth via caesarean section at 33 weeks of gestation to an infant weighing 2,500 g. The infant was born with microcephaly, frontal crease, down-slanting palpebral features, low-set ears, broad nasal bridge, median posterior cleft palate, single palmar crease, cryptorhidia, systolic heart murmur, dextrocardia. Karyotyping demonstrated trisomy 13. The infant died at 2 weeks of age. Although many infants with Patau syndrome die before the age of 1, a rare few do survive to later ages. Nanjani et al. discuss a case of a 51-year-old Caucasian woman with Patau syndrome who has a partial translocation of chromosome 13. She has polydactyly, microcephaly, microphthalmia, low-set ears, and a cleft palate. She required special education and was able to graduate from high school. She currently lives in an assisted living facility due to the development and exacerbation of her psychosis. Figure A demonstrates a karyotype of Patau syndrome showing trisomy 13. Illustration A is a karyotype of Edwards syndrome, which shows a trisomy of chromosome 18. Illustration B demonstrates the karyotype of Down syndrome, which shows trisomy 21. Illustration C demonstrates the karyotype of Turner syndrome (45,XO). Illustration D demonstrates the karyotype of Klinefelter syndrome (47, XXY). Incorrect answers: Answer 2: Edwards syndrome would show a karyotype with trisomy of chromosome 18. Answer 3: Down syndrome would show a karyotype with trisomy of chromosome 21. Answer 4: Turner syndrome would show a karyotype of 45,XO. Answer 5: Klinefelter syndrome would show a karyotype of 47,XXY.
3.3
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