Direct insertion ins(2;5)
46,XY,ins(2;5)(q14.2;q22q31)
Also known as: insertion, ins(2;5), interchromosomal insertion
46,XY,ins(2;5)(q14.2;q22q31) is a direct interchromosomal insertion: the segment of chromosome 5 between bands 5q22 and 5q31 is removed and inserted into chromosome 2 at band 2q14.2. The carrier is balanced, but the inserted segment can segregate on its own, so a child can inherit a pure duplication or a pure deletion of 5q22-q31.
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What the notation means
46count,XYsex chromosomes,ins(2;5)(q14.2;q22q31)abnormality
The shape of this abnormality
inssymbol(2;5)chromosomes(q14.2;q22q31)breakpoints
- (2;5)
- 2 receives the piece and 5 donates it: the receiver is written first.
- (q14.2;q22q31)
- q14.2 is the site on the receiver; q22q31 are the two bands that bound the piece, written pter to qter. The reverse order would mean the piece went in inverted.
- count · sex chromosomes
- a normal count and the usual male sex chromosomes
- abnormality
- an INSERTION: the segment between 5q22 and 5q31 of chromosome 5 is moved into chromosome 2 at 2q14.2, where it keeps its own orientation (said by the band order). Chromosome 2 grows by that piece; chromosome 5 loses it.