Abstract
A female infant with additional genetic material on the long arm of chromosome 18 is described. Cytogenetic studies of the infant and her mother showed that the altered region resulted from an unbalanced translocation of part of the long arm of chromosome 1. This chromosomal abnormality has not been reported previously, according to a recent registry of abnormal chromosome patterns. The patient had hydrops fetalis and multiple congenital abnormalities, involving the cardiovascular, respiratory, and skeletal systems, together with unusual facies. External features, radiological findings, and gross and microscopical examination at necropsy are presented and compared with previously reported cases of related but dissimilar chromosomal abnormalities.
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- Bonfante A., Stella M., Rossi G. Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26). Hum Genet. 1978 Dec 29;45(3):339–343. doi: 10.1007/BF00278732. [DOI] [PubMed] [Google Scholar]
- Garrett J. H., Finley S. C., Finley W. H. Fetal loss and familial chromosome 1 translocations. Clin Genet. 1975 Nov;8(5):341–348. doi: 10.1111/j.1399-0004.1975.tb01512.x. [DOI] [PubMed] [Google Scholar]
- Lurie I. W., Lazjuk G. I. Partial monosomies 18. Review of cytogenetical and phenotypical variants. Humangenetik. 1972;15(3):203–222. doi: 10.1007/BF00702354. [DOI] [PubMed] [Google Scholar]
- Neu R. L., Gardner L. I. A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation. Clin Genet. 1973 Jun;4(6):474–479. doi: 10.1111/j.1399-0004.1973.tb01935.x. [DOI] [PubMed] [Google Scholar]
- Rehder H., Friedrich U. Partial trisomy 1q syndrome. Clin Genet. 1979 Jun;15(6):534–540. doi: 10.1111/j.1399-0004.1979.tb00838.x. [DOI] [PubMed] [Google Scholar]
- Taysi K., Sekhon G. S. Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+). Hum Genet. 1978 Nov 16;44(3):277–285. doi: 10.1007/BF00394292. [DOI] [PubMed] [Google Scholar]
- Van den Berghe H., Van Eygen M., Fryns J. P., Tanghe W., Verresen H. Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik. 1973 May 25;18(3):225–230. doi: 10.1007/BF00290601. [DOI] [PubMed] [Google Scholar]
- Wilson M. G., Towner J. W., Forsman I., Siris E. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet. 1979;3(2):155–174. doi: 10.1002/ajmg.1320030207. [DOI] [PubMed] [Google Scholar]
- Yunis E., Egel H., Zúiga R., Ramirez E., Torres de Caballero O. M., Leibovici M. "De novo" trisomy 1q32 leads to 1qter and monosomy 3p25 leads to 3pter. Hum Genet. 1977 Apr 7;36(1):113–116. doi: 10.1007/BF00390442. [DOI] [PubMed] [Google Scholar]