Hostname: page-component-586b7cd67f-dsjbd Total loading time: 0 Render date: 2024-11-23T12:45:04.811Z Has data issue: false hasContentIssue false
  • English
  • Français

A case of trisomy 18 – clinical syndrome with chromosomal mosaic*

Published online by Cambridge University Press:  01 August 2014

E. de Toni ,
L. Massimo ,
M. G. Vianello  and
F. Dagna-Bricarelli
E. de Toni
Affiliation:
Cattedra di Genetica Umana dell'Università di Sassari
L. Massimo
Affiliation:
Clinica Pediatrica « G. Gaslini », dell'Università di Genova
M. G. Vianello
Affiliation:
Clinica Pediatrica « G. Gaslini », dell'Università di Genova
F. Dagna-Bricarelli
Affiliation:
Istituto di Puericultura dell'Università di Sassari

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A case of a female newborn, followed up to the 9th month of life, presenting a clinical picture of multiple malformations, typical of trisomy-18, is reported by the AA.: microcephaly, low set of ears, micrognaty, ogival palate, superabunding skin in the neck, simian crease, typical hands attitude, luxation of the right hip, severe neurological symptomatology with the characteristic rigidity and, finally, an extremely severe mental defect.

Growth has always been very poor; death occurred at the 9th month of life.

Chromosome research, done with two cultures of capillary blood, revealed the presence of two lines of normal and trisomy-18 cells in similar percentage.

The literature concerning the subject is examined and discussed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 4 , September 1966 , pp. 397 - 403
Copyright
Copyright © The International Society for Twin Studies 1966

Footnotes

*

Comunicazione tenuta alla Riunione dellia Sezione Ligure della Società Italiana di Pediatria il 17 febbraio 1966.

References

Bibliografia

Edwards, J. H. et al. (1960). A new trisomie syndrome. Lancet, 1: 787.Google Scholar
Gautier, M. (1966). Principales anomalies chromosomiques (en dehors du mongolisme). In: Encyclopédie Médico-Chirurgicale - Pédiatrie, Paris. 4002-T30.Google Scholar
Koulischer, L. et al. (1963). A case of trisomy-18 mosaicism. Lancet, 2: 945.CrossRefGoogle ScholarPubMed
Lejeune, J. et al. (1965). Les aberrations autosomiques. Atti XX Congr. Ass. Pediat. Lang. Franç., Nancy.Google Scholar
Patau, K. et al. (1960). Multiple congenital anomaly caused by an extra-automosome. Lancet, 1: 790.CrossRefGoogle Scholar
Patau, K. et al. (1961). Trisomy for chromosome no. 18 in man. Chromosoma, 12: 280.CrossRefGoogle ScholarPubMed
Smith, D. V. et al. (1960). New autosomal trisomy syndrome: multiple congenital anomalies caused by extra-chromosome. J. Pediat., 57: 338.Google Scholar
Turpin, R., Lejeune, J. (1965). Les Chromosomes Humains. Ed. Gauthier-Villars, Paris.Google Scholar
Yunis, J. J. (1965). Human Chromosome Methodology. Ed. Academic Press, New York.Google Scholar
Yunis, J. J. et al. (1964). Deoxyribose-nucleic-acid replication pattern of trisomy 18. Lancet, 2: 286.CrossRefGoogle ScholarPubMed
Warkany, J. et al. (1964). Chromosome analyses in a Children's Hospital. Pediatrics, 33: 290.CrossRefGoogle ScholarPubMed
Weiss, L. et al. (1962). Four infants with the trisomy 18 syndrome and one with trisomy 18 mosaicism. Amer. J. Dis. Child., 104: 533.Google Scholar