Summary
A patient with an atypical clinical picture of 18p− syndrome is described. By the in situ hybridization technique we localized the chromosome 18-specific cloned repetitive sequence to metaphase chromosomes of the patient. The predominant hybridization of the probe was found in pericentromeric regions of homologous chromosomes 18. The amount of pericentromeric DNA measured by in situ hybridization differed between homologous chromosomes; and the number of radioactive grains was statistically greater in the normal chromosome 18 than in the aberrant chromosome 18p−. The results indicate that this probe may be useful in clinical cytogenetics for identification of aberrant chromosomes, localization of breakpoints, and studies of C-band DNA polymorphism of chromosome 18.
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Alexandrov I, Yurov YuB, Mitkewich SP, Gindilis VN (1986) A cloned fragment of alphoid DNA — the molecular marker of centromere region of the 18 chromosome. Genetika (Moskva) (in press)
De GrouchyJ, Turleau C (1982) Atlas des maladies chromosomiques. Exp Scientifique Française, Paris
Fordyce RR, Welsh MS, Sanger WG (1983) Is 18ph-+ a normal chromosomal variant? Am J Hum Genet 35: A132
Gosden JR, Buckland RA, Clayton RP, Evans HS (1975) Chromosomal localization of DNA sequences in condensed and dispersed human chromatin. Exp Cell Res 92:138–147
Gosden JR, Lawrie SS, Cooke HJ (1981) A cloned repeated DNA sequence in human chromosome heteromorphisms. Cytogenet Cell Genet 29:32–39
McKay RDG, Bobrow M, Cooke HJ (1978) The identification of a repeated DNA sequence involved in the karyotype polymorphism of the human Y chromosome. Cytogenet Cell Genet 21:19–32
Yurov YuB (1984) In situ hybridization of cloned repetitive DNA sequences and differential staining of human chromosomes. Biull Eksp Biol Med 5:595–598
Yurov YuB, Alexandrov IA, Mitkewich SP, Vorsanova SG, Gindilis VM (1985) Mapping of human repeated DNA. III. A chromosome-18-specific and polymorphic variant of alphoid DNA. 8th Human Gene Mapping Workshop, Helsinki, Finland, 1985. J Mol Biol (in press)
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Vorsanova, S.G., Yurov, Y.B., Alexandrov, I.A. et al. 18p− Syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence. Hum Genet 72, 185–187 (1986). https://doi.org/10.1007/BF00283945
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DOI: https://doi.org/10.1007/BF00283945