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Complete deficiency of constitutive heterochromatin on a human chromosome 9

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Summary

In cultured amniotic fluid cells a mediocentric chromosome 9 appeared to be completely deficient in constitutive heterochromatin when stained with distamycin A and DAPI. In addition, this deficient chromosome was found in a blood cell culture from the father. Both the father and the child after birth were phenotypically normal. Evidently, a considerable heterozygotic deficit of chromosome 9 heterochromatin can be tolerated without affecting the phenotype. The heterochromatin defect was also shown by G11-staining. Distamycin A-DAPI staining is highly reproducible and is recommended as a fluorescent alternative to often less successful G11-methods for the detection of heteromorphism of chromosome 9.

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Buys, C.H.C.M., Ypma, J.M.M. & Gouw, W.L. Complete deficiency of constitutive heterochromatin on a human chromosome 9. Hum Genet 49, 129–132 (1979). https://doi.org/10.1007/BF00277634

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  • DOI: https://doi.org/10.1007/BF00277634

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