Abstract
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case, of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.
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References
Winter RM. Analysing human developmental abnormalities.Bioessays 1996; 18: 965–971.
McFadden DE and Friedman JM. Chromosomal abnormalities in human beings.Mutat Res 1997; 396: 129–140.
Buggenhout GV, Moerman PH and Fryns JP. Partial trisomy 4q due to a maternal translocation: t(4; 18) (q27;q21.31).Genet Counsel 1997; 8: 19–24.
Schinzel A and Schmid W. Partielle trisomie des kurzen arms von chromosome 4 mit translokation 4p, 18q+ beim vater.Humangenetik 1972; 15: 163–171.
Hoo JJ and Fuhrmann-Reiger A, Forster W, Doppl W, Pascu F and Bauer J. Multiple fehlbildungen als folge von partieller trisomie 4p und partieller monosomie 18q durch meiotsche rekombination.Monatsschr. Kinderheilkd 1983; 131: 169–172.
Hungerford DA. Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.Stain. Tech 1965; 40: 333–338.
Seabright M. A rapid banding technique for human chromosomes.Lancet 1971; ii: 971–972.
Gonzalez CH and Sommer A and Meisner LF and Eljalde BR and Opitz JM. The trisomy 4p syndrome: Case report and review.Am J Med Genet 1997; 1: 137–156.
Patel SV, Dagnew H, Parekh AJet al. Clinical manifestation of trisomy 4p syndrome.Eur J Pediatr 1995; 154: 425–431.
Dallapiccola B, Mastroiacovo P and Gandini E. Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p.Hum Genet 1976; 28: 121–125.
deGrouchy J, Royer P, Salmon Ch., and Lamy M. Deletion partielle des bras longs du chromosome 18.Pathol Biol 1964; 12: 579–583.
Ghidoni PD, Hale DE, Cody JDet al. Growth hormone deficiency associated in the 18q deletion syndrome.Am J Med Genet 1997; 69: 7–12.
Cody JD, Pierce JF, Brkanac Zet al. The 18q- syndrome.Am J Med Genet 1997; 69: 280–286.
Silverman GA, Schneider SS, Massa HFet al. The 18q-, syndrome: Analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.Am J. Hum Genet 1995; 56: 926–937.
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Thanemozhi, G., Santhiya, S.T., Chandra, N. et al. Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3). Indian J Pediatr 67, 601–604 (2000). https://doi.org/10.1007/BF02758495
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DOI: https://doi.org/10.1007/BF02758495