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
46- total chromosome count (the normal human number)
XX- sex chromosomes: two X (usual female karyotype)
t(11;22)(q23;q11.2)- 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)