Balanced t(11;22) carrier
46,XX,t(11;22)(q23;q11.2)
Also known as: t(11;22), constitutional t(11;22), Emanuel syndrome carrier
46,XX,t(11;22)(q23;q11.2) is the most common recurrent constitutional reciprocal translocation in humans. The carrier is balanced and healthy; the reproductive risk is a 3:1 segregation that passes the small der(22) on as an extra chromosome, producing Emanuel syndrome.
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What the notation means
46count,XXsex chromosomes,t(11;22)(q23;q11.2)abnormality
The shape of this abnormality
tsymbol(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 · sex chromosomes
- a normal count and the usual female sex chromosomes
- abnormality
- a reciprocal TRANSLOCATION: chromosomes 11 and 22 break (at 11q23 and 22q11.2) and swap the pieces beyond those breaks, giving two derivative chromosomes der(11) and der(22). The pieces that move are the tips, which carry no centromere; each derivative keeps the centromere it started with, and that is the chromosome it is named for