Abstract
A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.
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- Aula P., Leisti J., von Koskull H. Partial trisomy 21. Clin Genet. 1973;4(3):241–251. doi: 10.1111/j.1399-0004.1973.tb01149.x. [DOI] [PubMed] [Google Scholar]
- Cervenka J., Gorlin R. J., Djavadi G. R. Down syndrome due to partial trisomy 21q. Clin Genet. 1977 Feb;11(2):119–121. doi: 10.1111/j.1399-0004.1977.tb01288.x. [DOI] [PubMed] [Google Scholar]
- Daniel A., Lam-Po-Tang P. R. Structure and inheritance of some heterozygous Robertsonian translocation in man. J Med Genet. 1976 Oct;13(5):381–388. doi: 10.1136/jmg.13.5.381. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hagemeijer A., Smit E. M. Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet. 1977 Aug 31;38(1):15–23. doi: 10.1007/BF00295803. [DOI] [PubMed] [Google Scholar]
- Niebuhr E. Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik. 1974 Jan 22;21(1):99–101. doi: 10.1007/BF00278575. [DOI] [PubMed] [Google Scholar]
- WARKANY J., SOUKUP S. W. A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). J Pediatr. 1963 Jun;62:890–894. doi: 10.1016/s0022-3476(63)80103-1. [DOI] [PubMed] [Google Scholar]
- Williams J. D., Summitt R. L., Martens P. R., Kimbrell R. A. Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet. 1975 Jul;27(4):478–485. [PMC free article] [PubMed] [Google Scholar]