Analysis of Chromosome Karyotypes

Analysis of Chromosome Karyotypes

Symbols:

• r: Ring chromosome

• i: Isochromosome

• s: Satellite

• t: Translocation

• ace: Acentric fragment

• cen: Centromere

• dic: Dicentric

• ins: Insertion

• del: Deletion

• inv: Inversion

• /: Mosaicism

• Deletion: del

• Translocation: t

• Inversion: inv

• Duplication: dup

• Insertion: ins

• Acentric fragment: ace

• Dicentric: dic

• Satellite: s

• Isochromosome: i

• Ring chromosome: r

• Robertsonian translocation: rob

Chromosome Structure:

• In “14q13.2”:

• 14: Chromosome number

• q: Long arm of the chromosome

• 1: Band group

• 3: Band

• 2: Position on the band

Number of Observed Cells:

• In “mos47,XY,+21[25]/46,XY[75]”:

• 25: Number of cells observed with karyotype 47,XY,+21

• 75: Number of cells observed with karyotype 46,XY

Karyotype Analysis:

• 47,XY,+21[25]/46,XY[75]: Observation of mosaicism with 75 cells carrying the normal karyotype and 25 cells carrying trisomy 21 in a male patient.

• 46,XX,del(5)(p15.3): Cri du chat female with a deletion from band 3 of band group 5, region 1 to the end of chromosome 5.

• 46,XY,del(4)(p12p15.2): Wolf-Hirschhorn male with a deletion from band 2 of band group 5, region 1 to band 2 region 1 of chromosome 4.

• 45,XY,rob(14;15)(q10;q10): Male with a Robertsonian translocation at the centromere of chromosomes 14 and 15 (long arm).

• 46,XX,dup(15)(q24q26.3): Female with a duplication from band 3 of band group 6 to band 4 region 2 on chromosome 15.

• 46,XX,ins(5;11),(q13.1;p15.3p13): Female with an insertion from band 3 to band 3 of band group 5, region 1 of chromosome 11 into the position of band 1 of band group 3, region 1 of chromosome 5.

• 46,XX,ins(5;11),(q13.1;p13p15.3): Female with an insertion from band 3 to band 3 of band group 5, region 1 of chromosome 11 into the position of band 1 of band group 3, region 1 of chromosome 5 and with an inversion.

• 46,XY,rob(14;21)(q10;q10),+21: Male with a Robertsonian translocation leading to partial Down syndrome in the offspring.

• i(X)(q10): Isochromosome X (long arm).