#patau

For instance, autosomal trisomies. Like Patau's syndrome.

Sheesh, I better bring my kid to the PEDiatrician for a check up.

Patau syndrome: trisomy 13

Edwards Syndrome: trisomy 18

Down syndrome: trisomy 21

There are two kind of trisomies: trisomy 21, trisomy 13 and trisomy 18. The most common one is the Down syndrome (trisomy 21), with a risk of 1:650. The risk of Edwards syndrome (trisomy 18) is 1 in 8000 live births, and the risk of Patau syndrome (trisomy 13) is 1 in 14000. The diagnosis is confirmed by chromosome analysis. Many affected fetuses are detected by ultrasound scan during the second trimester.

Clinical features of Edwards syndrome:

low birthweight

prominent occiput

small mouth and chin

short sternum

flexed, overlapping fingers

Rocker-bottom feet

cardiac and renal malformations

Clinical features of Patau:

structural defect of brain

scalp defects

small eyes (microphthalmia) and other eye defects

cleft lip and palate

polydactyly