Summary
A case with partial monosomy G/monosomy G mosaicism is reported in a 20-year-old boy. In the peripheral blood lymphocytes two different cell types with the caryotypes 45, XY, G-and 46, XY, G cen (p-, q-) are present. The clinical picture deviates in many points from that described in earlier cases. Consequently one cannot speak of an uniform syndrome.
Zusammenfassung
Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G bei einem 20jährigen Jungen wird beschrieben. In Lymphocyten des peripheren Blutes liegen zwei verschiedene Zelltypen mit den Chromosomenkonfigurationen 45, XY, G-bzw. 46, XY, Gcen (p-, q-) vor. Das klinische Bild des Patienten weicht in vielen Punkten von dem früher beschriebener Fälle ab, so daß nicht von einem einheitlichen Syndrom gesprochen werden kann.
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., F. de la Cruz, L.-A. Goldsmith, J. Volpe, G. Mella, and J. C. Robinson: Autosomal monosomy in man. Complete Monosomy G(21–22) in a 41/2 year old mentally retarded girl. New Engl. J. Med. 277, 777–784 (1967).
Bauchinger, M., u. O. Hug: Chromosomenaberrationen nach Radium-Röntgentherapie gynäkologischer Tumoren. Strahlentherapie 131, 109–121 (1966).
Chicago Conference: Standardization in Human Cytogenetics. Birth Defects: Original Article Series, II: 2, 1966. The National Foundation, New York.
Cohen, M. M.: Chromosomal mosaicism associated with a case of cyclopia. J. Pediat. 69, 793–798 (1966).
Cooper, H. L., and K. Hirschhorn: Enlarged satellites as a familial chromosome marker. Amer. J. hum. Genet. 14, 107–124 (1962).
Engel, E., C. P. Hastings, R. E. Merril, B. S. McFarland, and W. E. Nance: Apparent cri-du-chat and “Antimongolism” in one patient. Lancet 1966 I, 1130–1132.
Feissly u. Lüdin: in Müller-Seifert: Taschenbuch der medizinisch-klinischen Diagnostik. München: Bergmann 1962.
Hall, B., K. Fredga, and N. Svenningsen: A case of monosomy G? Hereditas (Lund) 57, 356–363 (1967).
Hoefnagel, D., T. M. Schroeder, K. Benirschke, and F. H. Allen: A child with a group-G Ring chromosome. Humangenetik 4, 52–58 (1967).
Lejeune, J., R. Berger, M. O. Rethore, L. Archambault, H. Jerome, S. Thieffry, J. Aicardi, M. Broyer, J. La Fourcade, J. Cruveiller et R. Turpin: Monosomie partielle pour un petit acrocentrique. C. R. Acad. Sci. (Paris) 259, 4187–4190 (1964).
Merker, H., u. L. Heilmeyer: Die alkalische Phosphatase neutrophiler Leukocyten. Dtsch. med. Wschr. 85, 253 (1960).
Moorhead, P. S., P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford: Chromosomepreparations of leukocytes cultures from human peripheral blood. Exp. Cell Res. 20, 613–616 (1960).
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.
—, A. Darnell, J. W. Murphy, B. Hall, and S. Kasahara: A child with partial deletion of a G-group autosome. Amer. J. Dis. Child 114, 336–339 (1967).
Thorburn, M. J., and B. E. Johnson: Apparent monosomy of a G autosome in a Jamaican infant. J. med. Genet. 3, 290–292 (1966).
Author information
Authors and Affiliations
Additional information
(Leiter: Prof. Dr. med. O. Hug)
(Direktor: Prof. Dr. Dr. G. Bodechtel)
Rights and permissions
About this article
Cite this article
Bauchinger, M., Schmid, E. & Röttinger, E. Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G in den Lymphocyten des peripheren Blutes. Hum Genet 6, 303–310 (1968). https://doi.org/10.1007/BF00286799
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00286799