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. 2017 Feb;25(3):273-274.
doi: 10.1038/ejhg.2016.177. Epub 2016 Dec 21.

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

Ron Hochstenbach  1 , Anna Slunga-Tallberg  2 , Caroline Devlin  3 , Giovanna Floridia  4 , Marta Rodríguez de Alba  5 , Shama Bhola  6 , Katrina Rack  7 , Ros Hastings  7
Affiliations

Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

Ron Hochstenbach et al. Eur J Hum Genet. 2017 Feb.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The idic(Y)(q11.?21) chromosome from a male with hypogonadism that was mistaken by ~30% of participating laboratories for a normal Y chromosome. The karyotype was 46,X,idic(Y)(q11.?12)[17/]/45,X[13].ish idic(Y)(SRY++).nuc ish(DYZ3x2)[60/100],(DYZ1x0)[200]. (a) Representative idic(Y) chromosomes, each from a different metaphase. The dashed line represents the axis of symmetry. (b) For comparison, a structurally normal Y chromosome is shown. The dashed line is at the position of the centromere.
See this image and copyright information in PMC

References

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