Emanuel syndrome
47,XX,+der(22)t(11;22)(q23;q11.2)
Also known as: supernumerary der(22), der(22) syndrome, t(11;22) syndrome
47,XX,+der(22)t(11;22)(q23;q11.2) is Emanuel syndrome: an extra derivative chromosome 22 made of the exchanged pieces of the recurrent t(11;22). The supernumerary der(22) usually arises through 3:1 segregation in a parent who carries the balanced translocation.
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What the notation means
47- total chromosome count (normal is 46)
XX- sex chromosomes: two X (usual female karyotype)
+der(22)t(11;22)(q23;q11.2)- an abnormal (“derivative”) chromosome that has chromosome 22’s centromere. This is chromosome 22 (out to 22q11.2) with the end of chromosome 11’s long arm (11q23→qter) attached.