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
47count,XXsex chromosomes,+der(22)t(11;22)(q23;q11.2)abnormality
The shape of this abnormality
+der(22)symboltsymbol(11;22)chromosomes(q23;q11.2)breakpoints
- (11;22)
- the two chromosomes, the sex chromosome or the lower number first.
- (q23;q11.2)
- one breakpoint on each chromosome, in the same order; each keeps its own centromere and takes the other's piece beyond the break.
- count
- total chromosome count (normal = 46)
- sex chromosomes
- sex chromosomes: two X (usual female karyotype)
- abnormality
- 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.