Summary
Sequential QFQ and RFA techniques were performed on a patient with Down syndrome and his parents. The paternal nondisjunctional event occurred in the first meiotic division. The origin of the extra chromosome 21 was determined by RFA. QFQ was not informative due to the absence of markers on chromosome 21. For maximal characterization of variations involving chromosome 21, sequential QFQ and RFA techniques are necessary. Consequently, the sequential QFQ and RFA techniques would be a definite asset in determining the source of the extra chromosome in patients with Down syndrome.
Similar content being viewed by others
Article PDF
References
Bott, C. E., Sekhon, G. S. and Lubs H. A. 1975. Unexpected high frequency of paternal origin of trisomy 21: (abst). 27th Annual meeting of the American Society of Human Genetics.
deGrouchy, J. 1970. 21p- maternel en couble exemplaire chez un trisomique 21.Ann. Genet 13: 52–55.
Geralds, J.P.M. and Pearson, P. L. 1974. Fluorescent chromosome polymorphisms: frequencies and segregations in a Dutch population.Clin. Genet. 6: 245–257.
Juberg, R. C. and Jones, B. 1970. The Christchurch chromosome: mongolism, erythroleukemia and an inherited Gp- chromosome (Christchurch).New Eng. J. Med. 282: 292.
Licznerski, G. and Lindsten, J. 1972. Trisomy 21 in man due to maternal nondisjunction during the first meiotic division.Hereditas 70: 153–154.
Lin, C. C., Gedeon, M. M., Griffith, P., Smink, W. K., Newton, D. R., Wilkie, L. and Sewell, L. M. 1976. Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique.Hum. Genet. 31: 315–328.
McKenzie, W. H. and Lubs, H. A. 1975. Human Q and C chromosomal variations: distribution and incidence.Cytogenet. Cell Genet. 14: 97–115.
Mikkelsen, M., Hallberg, A. and Poulsen, H. 1976. Maternal and Paternal origin of extra chromosome in trisomy 21.Hum. Genet. 32: 17–21.
Mutton, D. E. 1973. Origin of extra chromosome in trisomy 21.Lancet I: 375.
Paris Conference: Standardization in Human Cytogenetics, Birth Defects: Original article series VIII: The National Foundation, New York (1971).
Paris Conference (1971), Supplement (1975): Standardization in Human Cytogenetics, Birth Defects: Original Articles Series, XI, 9 (1975).
Robinson, J. A. 1973. Origin of extra chromosome in trisomy 21.Lancet I: 131–133.
Sasaki, M. and Hara, Y. 1973. Paternal origin of the extra chromosome in Down's syndrome.Lancet II: 1257–1258.
Smith, G. F. and Sachdeva, S. 1973. Origin of extra chromosome in trisomy 21.Lancet I: 487.
Uchida, I. A. 1973. Paternal origin of the extra chromosome in Down's syndrome.Lancet II:
Verma, R. S. and Lubs, H. A. 1975a. Variation in human acrocentric chromosomes with acridine orange reverse banding.Humangenetik 30: 225–235.
Verma, R. S. and Lubs, H. A. 1975b. A simple R banding technic.Amer. J. Hum. Genet. 27: 110–117.
Verma, R. S., Dosik, H. and Lubs, H. A. 1976. Frequencies of R polymorphisms in human acrocentric chromosomes with acridine orange reverse banding (RFA) in Caucasians (abs.) Excerpta Medica, Intl. Congress Sr. #397.
Verma, R. S. and Lubs, H. A. 1976a. Inheritance of acridine orange R variants in human acrocentric chromosomes.Hum. Hered. 26: 315–318.
Verma, R. S. and Lubs, H. A. 1976b. Additional observations on the preparation of R banded chromosomes with acridine orange.Can. J. Genet. Cytol. 18: 45–50.
Verma, R. S. and Dosik, H. 1976. An improved method for photographing fluorescent human chromosomes.J. Microscopy 108: 339–341.
Verma, R. S., Dosik, H. and Lubs, H. A. 1977a. Frequency of RFA color polymorphisms of human acrocentric chromosomes in caucasians: Interrelationship with QFQ polymorphisms.Ann. Hum. Genet. (in press)
Verma, R. S., Dosik, H. and Lubs, H. A. 1977b. Size variation of the short arm of human acrocentric chromosomes determined by R banding by fluorescence using acridine orange (RFA).Hum. Genet. (in press)
Author information
Authors and Affiliations
Additional information
Supported by the National Cancer Institute Contract #1 CP43251
Rights and permissions
About this article
Cite this article
Verma, R.S., Dosik, H. Trisomy 21 in a child due to paternal nondisjunction as determined by RFA technique. Jap J Human Genet 23, 17–21 (1978). https://doi.org/10.1007/BF01871378
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01871378
Keywords
This article is cited by
-
A possible cause of non-disjunction of additional chromosome 21 in Down syndrome
MGG Molecular & General Genetics (1986)
-
Human chromosomal heteromorphisms in american blacks
Human Genetics (1981)