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.
Similar content being viewed by others
References
Craig-Holmes, A. P.: C-band polymorphism in human populations. In: Population cytogenetics. Studies in humans, E. B. Hook, I. H. Porter, eds., pp. 161–177. New York: Academic Press 1977
Ford, J. H., Lester, P.: Chromosomal variants and nondisjunction. Cytogen. Cell Genet. 21, 300–303 (1978)
Gagné, R., Laberge, C.: Specific cytologic recognition of the heterochromatic segment of number 9 chromosome in man. Exp. Cell Res. 73, 239–242 (1972)
Ghosh, P. K., Singh, I. P.: Morphologic variability of human chromosomes: polymorphism of constitutive heterochromatin. Hum. Genet. 32, 149–154 (1976)
Jones, K. W., Prosser, J., Corneo, G., Ginelli, E.: The chromosomal location of human satellite DNA III. Chromosoma 42, 445–451 (1973)
Kunze, J., Mau, G.: A1 and C9 marker chromosomes in children with combined minor and major malformations. Lancet 1975I, 273
Nielsen, J., Friedrich, U., Hreidarsson, A. B., Zeuthen, E.: Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+. Hum. Genet. 21, 211–216 (1974)
Schweirer, D., Ambros, P., Andrle, M.: Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A. Exp. Cell Res. 111, 327–332 (1978)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00277634