Mißbildungssyndrom bei autosomaler Defizienz (D 2/G 1)
Article
Received:
Zusammenfassung
Bei einem geistig und statisch retardierten Kind mit Skaphocephalie und Hypospadie wurde eine Translokation zwischen den Chromosomen D2 und G1 festgestellt. Die gleiche Aberration und zusätzlich ein kleines akrozentrisches Extrachromosom fand sich bei der gesunden Mutter des Kindes. Daraus wird geschlossen, daß bei der Mutter eine genetisch balancierte reziproke Translokation D2/G1 vorliegt und deshalb bei dem Kind eine Defizienz beider Chromosomen vorhanden sein muß. Die Symptomatik wird mit ähnlichen Beobachtungen von Defizienzen akrozentrischer Chromosomen verglichen.
A syndrome of multiple malformations caused by autosomal deficiency (D2/G1)
Summary
Translocation between one chromosome D2 and one G1 has been found in a child with psychomotor retardation, scaphocephalus and hypospadias. The child's healthy mother showed the same aberration and an additional small acrocentric chromosome. It is concluded that the mother has a genetically balanced reciprocal translocation D2/G1 causing deficiency of both chromosomes in the child. The symptomatology is compared with similar reports concerning acrocentric deficiencies of chromosomes.
Preview
Unable to display preview. Download preview PDF.
Literatur
- Bain, A. D., and I. K. Gauld: Multiple congenital abnormalities associated with ring chromosome. Lancet 1963/II, 304.Google Scholar
- Hadorn, E.: Letalfaktoren. Stuttgart: Thieme 1955.Google Scholar
- Hamerton, J. L. (Ed.): Chromosomes in Medicine. Little Club Clinics in Developmental Medicine No. 5, 1962.Google Scholar
- Jacobsen, P., M. Mikkelsen, A. Frøland, and A. Dupont: Familial transmission of a translocation between two non-homologous large acrocentric chromosomes. Clinical, cytogenetic and autoradiographic studies. Ann. hum. Genet. 29, 391 (1966).Google Scholar
- Laurent, C., et J. M. Robert: Ségrégation d'une translocation D/G “en tandem” sur trois générations. Ann. Génét. 9, 134 (1966).Google Scholar
- Lejeune, J., R. Berger et M. Rethoré: Un cas de translocation G/G en tandem. Ann. Génét. 8, 60 (1965).Google Scholar
- MacIntyre, N. M., W. I. Staples, A. G. Steinberg, and J. M. Hempel: Familial mongolism (trisomy 21 syndrome) resulting from 15/21 chromosome translocation in more than 3 generations of a large kindred. Amer. J. hum. Genet. 14, 335 (1962).Google Scholar
- Mellman, W. J., L. A. Barness, T. A. Tedesco, and D. Besselman: Indolylacroyl glycine excretion in a family with mental retardation. Clin. chim. Acta 8, 843 (1963).Google Scholar
- Moorhead, P. S., W. J. Mellman, and Ch. Wenar: A familial chromosome translocation associated with speech and mental retardation. Amer. j. hum. Genet. 13, 32 (1961).Google Scholar
- —, P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford: Chromosome preparations of leukocytes cultures from human peripheral blood. Exp. Cell Res. 20, 613 (1960).Google Scholar
- Pfeiffer, R. A.: unveröffentlichte Beobachtungen (1965).Google Scholar
- Pfeiffer, R. A.: Beispiele der Vererbung von Translokationen akrozentrischer Chromosomen. Ber. 8. Tagung d. Dtsch. Gesellsch. Anthrop., Köln 1963.Google Scholar
- —: Chromosomenanomalie bei einem Neugeborenen mit renofacialer Dysplasie. Dtsch. med. Wschr. 89, 2192 (1964).Google Scholar
- —, U. Keuth, E. Stupperich u. Th. Büchner: Klinik und Cytogenetik einer reziproken Translokation zwischen Chromosomen der Gruppen B (4–5) und D (13–15). Beitr. path. Anat. 133, 249 (1966).Google Scholar
- Reisman, L. E., E. Darwell, and J. W. Murphy: Abnormality with ring chromosome. Lancet 1965/II, 445.Google Scholar
- Richards, B. W., A. Stewart, and P. E. Sylvester: Reciprocal translocation and mosaicism in a mongol. J. ment. Defic. Res. 9, 118 (1965).Google Scholar
- Robertson, J., J. P. Mellon, and J. S. S. Stewart: Down's syndrome with unusual karyotype and thyroid autoantibodies. J. ment. Defic. Res. 9, 157 (1965).Google Scholar
- Shaw, M. W.: Familial mongolism. Cytogenetics 1, 141 (1962).Google Scholar
- Stalder, G. R., E. M. Bühler, G. Gadola, R. Widmer, and E. Frenier: A family with balanced D1—CS translocation carriers and unbalanced offspring. Humangenetik 1, 197 (1964).Google Scholar
- Stoeckenius, M.: D/G translocation in Down's syndrome. Lancet 1966/I, 1208.Google Scholar
- ——, J. Lafourcade et M. Gautier: Aberrations chromosomiques et maladies humaines. La polydysspondylie à 45 chromosomes. C. R. Acad. Sci. (Paris) 248, 3636 (1960).Google Scholar
- Warkany, J., and S. W. Soukup: A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). J. Pediat. 62, 890 (1963).Google Scholar
- Wenar, C., B. A. Ruttenberg, W. J. Mellman, and M. S. Cooke: A family with fusion translocation. J. ment. Defic. Res. 8, 93 (1964).Google Scholar
- Wolf, U., H. Reinwein, W. Gey u. J. Klose: Cri-du-chat Syndrom mit Translokation 5/D2. Humangenetik 2, 63 (1966).Google Scholar
- Yunis, J. J., M. Alter, E. B. Höök, and M. Mayer: Familial D/D translocation. New Engl. J. Med. 271, 1133 (1964).Google Scholar
- —, E. B. Höök: Deoxyribonucleic acid replication and mapping of the D1 chromosome. Amer. J. Dis. Child. 111, 83 (1966).Google Scholar
- Yunis, J. J., E. B. Höök and M. Mayer: Deoxyribonucleic replication pattern of trisomy D1. Lancet 1964/II, 935.Google Scholar
- ———: Identification of the mongolism chromosome by DNA replication analysis. Amer. J. hum. Genet. 17, 191 (1965).Google Scholar
- Zellweger, H., K. Mikamo, and G. Abbo: An unusual translocation in a case of mongolism. J. Pediat. 62, 225 (1963).Google Scholar
Copyright information
© Springer-Verlag 1967