Edwards syndrome
47,XY,+18
Also known as: Trisomy 18, 47 XY +18
47,XY,+18 is the karyotype of Edwards syndrome, a trisomy of chromosome 18. It is the second most common autosomal trisomy and carries a severe prognosis.
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18
18
What the notation means
47- total chromosome count (normal is 46)
XY- sex chromosomes: one X, one Y (usual male karyotype)
+18- an EXTRA copy of chromosome 18 (three copies = trisomy 18)
Clinical notes
Trisomy 18, Edwards syndrome
Three copies of chromosome 18. Clenched fists with overlapping fingers, rocker-bottom feet, micrognathia, congenital heart disease; most die in the first year.