Abstract
Clinical, cytogenetic and blood-grouping studies are reported in a child, who was found to have a stable group-G ring chromosome. Difficulties in the detection of ring formation in chromosomes of the G-group have been discussed. No gene losses due to the ring formation could be detected.
Similar content being viewed by others
References
Atkins, L., S. S. Pant, G. W. Hazard, and E. M. Ouellette: Two cases with a C-group ring autosome. Ann. hum. Genet. 30, 1–6 (1966a).
—, R. T. Sceery, and M. E. Keenan: An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development. J. med. Genet. 3, 134–138 (1966b).
Court Brown, W. M., K. E. Buckton, P. A. Jacobs, I. M. Tough, E. V. Kuenssberg, and J. D. E. Knox: Chromosome studies on adults. Eugenics Laboratory Memoirs XLII, pp. 91. London: Cambridge Univ. Press 1966.
Elmore, S. M., W. E. Nance, B. J. McGee, M. Engel, and E. Engel: Pycnodysostosis, with a familial chromosome anomaly. Amer. J. Med. 40, 273–282 (1966).
Engel, E., C. P. Hastings, R. E. Merrill, B. S. McFarland, and W. E. Nance: Apparent cri-du-chat and “antimongolism” in one patient. Lancet 1966/I, 1130–1132.
Gey, W.: Untersuchungen über die DNS-Replikationsmuster der Chromosomengruppen 4–5, 13–15 und 21–22 an in vitro gezüchteten menschlichen Lymphocyten. Humangenetik 2, 246–261 (1966).
Lejeune, J., R. Berger, M. O. Rethore, L. Archambault, H. Jerone, S. Thieffry, J. Aicardi, M. Broyer, J. LaFourcade, J. Cruveiller, and R. Turpin: Monosomie partielle pour un petit acrocentrique. C.R. Acad. Sci. (Paris) 259, 4187–4190 (1964).
Levan, A.: Self-perpetuating ring chromosomes in two human tumours. Hereditas (Lund) 42, 366–372 (1956).
Lucas, M., N. H. Kemp, J. R. Ellis, and R. Marshall: A small autosomal ring chromosome in a female infant with congenital malformations. Ann. hum. Genet. 27, 189–195 (1963).
McIlree, M. E., W. S. Tulloch, and J. E. Newsam: Studies on human meiotic chromosomes from testicular tissue. Lancet 1966/I, 679–682.
Migeon, B. R.: Familial variant autosomes: New Human Cytogenetic markers. Bull. Johns Hopk. Hosp. 116, 396–402 (1965).
Neu, R. L., J. C. Leao, and L. I. Gardner: Short-arm deletions in G-group chromosomes. Lancet 1966/II, 390–391.
Penrose, L. S.: Anti-Mongolism. Lancet 1966/I, 497.
Reisman, L. E., S. Kasahara, C. Y. Chung, A. Darnell, and B. Hall: Anti-Mongolism. Studies in an infant with a partial monosomy of the 21 chromosome. Lancet 1966/I, 394–397.
Turner, B., A. N. Jennings, G. M. den Dulk, and Th. Stapleton: A self-perpetuating ring chromosome. Med. J. Aust. 49, 56–58 (1962).
Author information
Authors and Affiliations
Additional information
This investigation was supported by Grants GM 10210, HE 09011 and HE 08630 of the United States Public Health Service and Grants of the National Foundation-March of Dimes Inc. and the Fay-Hunter Estates.
Rights and permissions
About this article
Cite this article
Hoefnagel, D., Schroeder, T.M., Benirschke, K. et al. A child with a group-G ring chromosome. Hum Genet 4, 52–58 (1967). https://doi.org/10.1007/BF00279179
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00279179