Abstract
A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects of the trisomy 18q.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bass H. N., Sparkes R. S., Miller A. A. Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q). Clin Genet. 1979 Sep;16(3):163–168. doi: 10.1111/j.1399-0004.1979.tb00986.x. [DOI] [PubMed] [Google Scholar]
- Froster-Iskenius U., Coerdt W., Rehder H., Schwinger E. Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology. Clin Genet. 1984 Dec;26(6):549–554. doi: 10.1111/j.1399-0004.1984.tb01102.x. [DOI] [PubMed] [Google Scholar]
- Larson L. M., Wasdahl W. A., Saumur J. H., Coleman M. L., Jalal S. M. Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome. J Med Genet. 1978 Feb;15(1):73–76. doi: 10.1136/jmg.15.1.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Matsuoka R., Matsuyama S., Yamamoto Y., Kuroki Y., Matsui I. Trisomy 18q. A case report and review of karyotype-phenotype correlations. Hum Genet. 1981;57(1):78–82. doi: 10.1007/BF00271173. [DOI] [PubMed] [Google Scholar]
- Müller H., Bühler E. M., Signer E., Egli F., Stalder G. R. Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography. J Med Genet. 1972 Dec;9(4):462–467. doi: 10.1136/jmg.9.4.462. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wulfsberg E. A., Sparkes R. S., Klisak I. J., Teng A. Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome. J Med Genet. 1984 Apr;21(2):151–153. doi: 10.1136/jmg.21.2.151. [DOI] [PMC free article] [PubMed] [Google Scholar]