Summary
Cytogenetic studies on lymphocytes from a girl aged 3 years and 10 months revealed a ring chromosome 15. Several banding methods showed the r(15) chromosome not to have any apparent deletion of the long arm. The silver staining technique for nucleolar organizer regions showed an NOR positive region (band p12). In only a few cells was a chromosome 15 missing. The size of the r(15) was found to be constant. Comparison with 11 previous reported cases in the literature shows that the clinical manifestations in the different patients with ring chromosome 15 are constant although not clinically identifiable and it appears likely to attribute them to a significantly retarded intrauterine and postnatal growth instead of presumed deficiency in the long arm and mosaic configurations.
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References
Emberger JM, Rossi D, Jean R, Bonnet H, Dumas R (1971) Etude d'une observation de chromosome du groupe 13–15 en anneau (46,XY, 15r). Hum Genet 11:295–299
Ferrante R, Boscherini B, Bruni L, Vignetti P, Finocchi G (1977) La sindrome r(15) (Cromosoma 15 ad anello). Minerva Pediat 29:2163–2168
Forabosco A, Dutrillaux B, Vazzoler H, Lejeune J (1972) Chromosome 15 en anneau; r(15): Identification par denaturation menagée. Ann Genet 15:267–270
Fryns JP, Timmermans J, D'Hondt F, Francois B, Emmery L, Van den Berghe H (1979) Ring chromosome 15 syndrome. Hum Genet 51:43–48
Gilgenkrantz S, Cabrol C, Lausecker C, Hartleyb ME, Bohe B (1971) Le syndrome Dr. Etude d'un nouveau cas (46,XX,14r). Ann Genet 14:23–31
Jacobsen P (1966) A ring chromosome in the 13–15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas 55:188
Kjessler B, Gustavson K-H, Wigertz A (1978) Apparently non-deleted ring 1-Chromosome and extreme growth in a mentally retarded girl. Clin Genet 14:8–15
Laszlo J, Gaál M, Bosze P (1976) Chromosome studies in ovarian hypoplasia. Clin Genet 9:61–70
Niebuhr E (1977) Partial trisomies and deletions of chromosome 13. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York, p 273
Pfeiffer RA, Dhadial R, Lenz W (1977) 46,XX/46,XX,r(15) mosaicism. Report of a case. J Med Genet 14:63–65
Rumenié L, Joksimovic I, Anaf M (1976) Ring chromosome 15 in child with a minor dysmorphism of phenotype. Humangenetik 33:187–188
Scheibenreiter S, Frisch H (1978) Ein Kind mit Ringchromosom 15. Klin Wochenschr 90:22–25
Schmid M, Henrichs I, Nestler H, Knorr-Gartner H, Teller WM (1978) Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15. Hum Genet 41:289–299
Stoll C, Juif JG, Luckel JC, Lausecker C (1975) Ring chromosome 15:r(15). Identification by R banding. Humangenetik 27:259–262
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Yunis, E., Leibovici, M. & Quintero, L. Ring (15) chromosome. Hum Genet 57, 207–209 (1981). https://doi.org/10.1007/BF00282025
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DOI: https://doi.org/10.1007/BF00282025