Human Chromosome Atlas by Claudia Behrend Javad Karimzad Hagh Parvin Mehdipour & Gesa Schwanitz

Author:Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour & Gesa Schwanitz
Language: eng
Format: epub
Publisher: Springer International Publishing, Cham

Fig. 4.30Karyotype 46,XX,inv(11)(q21q23.3). a GTG-, b QFQ-banding, 550 and 400 bands per genome, c QFQ-, d GTG-banding, chromosomes from different mitoses, left normal, right inverted chromosome 11, e ideograms of chromosome 11, characteristic frequent breakpoints

Case 31: Karyotype: 46,XX,inv(12)(q21.1q24.1)

Morphology:

Presented here is a medium-sized, intermediate inversion in the long arm of chromosome 12, which comprises about 25% of the total length of the chromosome. The dislocation of band q23 leads to a striking altered banding pattern, already detectable at a resolution of 400–550 bands per genome, but the exact localisation of the breakpoints affords a higher resolution.

Cave:

According to the literature the genetic risk for the carrier is low. This has to be taken into account when counseling the carrier and his family (Fig. 4.31).

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