Abstract
A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.
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.
- Boué J., Boué A. Chromosomal analysis of two consecutive abortuses in each of 43 women. Humangenetik. 1973 Sep 20;19(3):275–280. doi: 10.1007/BF00278402. [DOI] [PubMed] [Google Scholar]
- CARR D. H. CHROMOSOME STUDIES IN SPONTANEOUS ABORTIONS. Obstet Gynecol. 1965 Sep;26:308–326. [PubMed] [Google Scholar]
- Caspersson T., Zech L., Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970 Jun;60(3):315–319. doi: 10.1016/0014-4827(70)90523-9. [DOI] [PubMed] [Google Scholar]
- Lauritsen J. G., Jonasson J., Therkelsen A. J., Lass F., Lindsten J., Petersen G. B. Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas. 1972;71(1):160–163. doi: 10.1111/j.1601-5223.1972.tb01016.x. [DOI] [PubMed] [Google Scholar]
- MOORHEAD P. S., NOWELL P. C., MELLMAN W. J., BATTIPS D. M., HUNGERFORD D. A. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960 Sep;20:613–616. doi: 10.1016/0014-4827(60)90138-5. [DOI] [PubMed] [Google Scholar]
- Magenis R. E., Hecht F., Milham S., Jr Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival. J Pediatr. 1968 Aug;73(2):222–228. doi: 10.1016/s0022-3476(68)80072-1. [DOI] [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Sumner A. T., Evans H. J., Buckland R. A. New technique for distinguishing between human chromosomes. Nat New Biol. 1971 Jul 7;232(27):31–32. doi: 10.1038/newbio232031a0. [DOI] [PubMed] [Google Scholar]