Summary
Two infants with physical and mental retardation and some signs typical of mongolism are reported. One of them also showed symptoms characteristic of “antimongolism”. The clinical picture is compared with former reported findings in patients with ring G-chromosome and other comparable G-aberrations.
It could be shown that the ring G-karyotype is not correlated with a well defined ring G-syndrome; but the clinical picture of patients with ring G is in most cases consistent with one of the phenotypical groups of comparable G-aberrations.
Zusammenfassung
Es wird über zwei statisch und geistig retardierte Mädchen mit Ring G-Chromosom berichtet, die einige für Mongolismus typische Merkmale zeigten. Bei einem der Kinder fanden sich auch Symptome, wie sie beim “Antimongolismus”-Syndrom beschrieben wurden. Die Befunde werden mit den bisher mitgeteilten Beobachtungen bei Ring G-Trägern und Patienten mit entsprechenden G-Aberrationen verglichen. Dabei zeigt sich, daß es kein einheitliches Ring G-Syndrom gibt, die klinischen Bilder bei Ring G sich aber meistens in eine der verschiedenen phänotypischen Gruppen bei vergleichbaren G-Aberrationen einordnen lassen.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Literatur
Al-Aish, M. S., de la Cruz, F., Goldsmith, L. A., Volpe, J., Mella, G., Robinson, J. C.: Autosomal monosomy in man. Complete monosomy G (21–22) in a four-and-one-half-year-old mentally retarded girl. New Engl. J. Med. 277, 777–784 (1967).
Back, F., Dörmer, P., Baumann, P., Olbrich, E.: Trisomy 21 or 22 in Down's syndrome? Lancet 1967 I, 1228.
Benson, P. F., Taylor, A. I., Gough, M. H.: Chromosome anomalies in primary lymphoedema. Lancet 1967 I, 461.
Bland, C. E., Lorber, J.: A patient with 45,XX,G-/46,XX,Gr mosaicism. J. med. Genet. 6, 220–223 (1969).
Broyer, M., Chevrie, J.-J., Aicardi, J., Vinh, L. T., Thiéffry, St.: Malformations chez un enfant porteur d'une monosomie partielle pour un chromosome 21–22. Presse méd. 74, 791–796 (1966).
Challacombe, D. N., Taylor, A.: Monosomy for a G autosome. Arch. Dis. Childh. 44, 113–119 (1969).
Cohen, M. M., Davidson, R. G.: Down's syndrome associated with a familial (21 q-; 22q+) translocation. Cytogenetics 6, 321–330 (1967).
Dent, T., Edwards, J. H., Delhanty, J. D. A.: A partial mongol. Lancet 1963 II, 484–487.
Endo, A., Yamamoto, M., Watanabe, G.-I., Suzuki, Y., Sakai, K.: “Antimongolism” syndrome. Brit. med. J. 4, 148–149 (1969).
Engel, E., Hastings, C. P., Merill, R. E., McFarland, B. S., Nance, W. E.: Apparent cri-duchat and “antimongolism” in one patient. Lancet 1966 I, 1130–1132.
Fraccaro, M.: In Wolstenholme, G. E. W., and Porter, R. (eds.): Mongolism. London: Ciba Foundation Study Group 25, p. 62 (1967).
German, J. L., Bearn, A. G. (1962): zit. b. Penrose, L. S.: Antimongolism. Lancet 1966 I, 497 und Penrose, L. S., Smith, G. F.: Down's anomaly, pp. 142–144. London: Churchill 1966.
Giorgi, P., Paci, A., Ceccarelli, M., Vizzoni, L.: A new case of incomplete Down syndrome with partial trisomy 21. Helv. paediat. Acta 23, 540–545 (1968).
Hall, B., Fredga, K., Svenningsen, N.: A case of monosomy G? Hereditas (Lund) 57, 356–364 (1967).
Hecht, F., Weleber, R. G.: Trisomy 21 or 22 in Down's syndrome? Lancet 1967 II, 467.
Hindle, R. C. (1967): zit. b. Challacombe, 1969 (s. dort).
Hoefnagel, D., Schröder, T. M., Benirschke, K., Allen, F. H. Jr.: A child with a group-G ring chromosome. Humangenetik 4, 52–58 (1967).
Ilbery, P. L. T., Lee, C. W. G., Winn, S. M.: Incomplete trisomy in a mongoloid child exhibiting minimal stigmata. Med. J. Aust. 2, 182 (1961).
Lejeune, J.: De la duplication des structures circulaires. Ann. Génét. 11, 71–77 (1968).
—, Berger, R., Réthoré, M.-O., Archambault, L., Jérôme, H., Thiéffry, St., Aicardi, J., Broyer, M., Lafoureade, J., Cruveiller, J., Turpin, R.: Monosomie partielle pour un petit acrocentrique. C. R. Acad. Sci. (Paris) 259, 4187–4190 (1964).
Lucas, M., Kemp, N. H., Ellis, J. R., Marshall, R.: A small autosomal ring chromosome in a female infant with congenital malformations. Ann. hum. Genet. 27, 189 (1963).
McIlree, M. E., Tulloch, W. S., Newsam, J. E.: Studies on human meiotic chromosomes from testicular tissue. Lancet 1966 I, 679–682.
Reisman, L., E., Kasahara, S., Chung, C. Y., Darnell, A., Hall, B.: Antimongolism. Studies in an infant with a partial monosomy of the 21 chromosome. Lancet 1966 I, 394–397, 602.
—, Darnell, A., Murphy, J. W., hall, B., Kasahara, S.: A child with partial deletion of a G-group autosome. Amer. J. Dis. Child. 114, 336–339 (1967).
Richards, B. W., Stewart, A., Sylvester, P. E.: Reciprocal translocation and mosaicism in a mongol. J. ment. Defic. Res. 9, 118–124 (1965).
Schulz, J., Krmpotic, E.: Monosomy G mosaicism in two unrelated children. J. ment. Defic. Res. 12, 255–268 (1968).
Soudek, D., Laxová, R., Adámek, R.: Pericentric inversion in a family with a 21/22 translocation. Cytogenetics 7, 108–117 (1968).
Thorburn, M. J., Johnson, B. E.: Apparent monosomy of G autosome in Jamaican infant. J. med. Genet. 3, 290–292 (1966).
Warkany, J., Soukup, S. W.: A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). J. Pediat. 62, 890–894 (1963).
Weleber, R. G., Hecht, F., Giblett, E. R.: Ring-G-chromosome, a new G-deletion syndrome? Amer. J. Dis. Child. 115, 489–493 (1968).
Zdansky, R., Bühler, E. M., Vest, M., Bühler, U. K., Stalder, G.: Familiäres Mosaik mit G-Ring. Humangenetik 7, 275–286 (1969).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Grosse, KP., Böwing, B., Hopfengärtner, F. et al. Ring G-Chromosom. Hum Genet 12, 142–155 (1971). https://doi.org/10.1007/BF00291470
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00291470