Patau syndrome
47,XX,+13
Also known as: Trisomy 13, 47 XX +13
47,XX,+13 is the karyotype of Patau syndrome, a trisomy of chromosome 13. Midline defects such as holoprosencephaly, cleft lip and palate, and polydactyly are characteristic.
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What the notation means
47- total chromosome count (normal is 46)
XX- sex chromosomes: two X (usual female karyotype)
+13- an EXTRA copy of chromosome 13 (three copies = trisomy 13)
Clinical notes
Trisomy 13, Patau syndrome
Three copies of chromosome 13. Holoprosencephaly, cleft lip/palate, polydactyly, cutis aplasia; high early mortality.