Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)
作者： G. Thanemozhi , S. T. Santhiya , N. Chandra , G. Palka , S. Jayam
DOI: 10.1007/BF02758495
关键词: Trisomy 、 Karyotype 、 Fluorescence in situ hybridization 、 Monosomy 、 Andrology 、 Chromosomal translocation 、 Cytogenetics 、 Offspring 、 Aneuploidy 、 Medicine
摘要: A carrier status for balanced translocation in either of the parents increases risk congenital malformation offspring. case multiple anomalies a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as result reciprocal translocation, t(4; 18) (p11; q21.3) father. The clinical cytogenetic findings are compared characteristic features 4p, two similar cases reported earlier.
springer.com
sci-hub.se 参考文章(15)
J Overhauser, H F Massa, G A Silverman, M Lalande, B J Trask, A Flint, G van den Engh, J C Leonard, S S Schneider, 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. American Journal of Human Genetics. ,vol. 56, pp. 926- 937 ,(1995)
C. Leonard, P. Hazael-Massieux, L. Bocquet, L. Larget-Piet, J. Boué, Inversion péricentrique inv (2) (p11 q13) dans des familles non apparentées Human Genetics. ,vol. 28, pp. 121- 128 ,(1975) , 10.1007/BF00735744
A. Schinzel, W. Schmid, Partielle Trisomie des kurzen Arms von Chromosom 4 mit Translokation 4p-,18q+ beim Vater Human Genetics. ,vol. 15, pp. 163- 171 ,(1972) , 10.1007/BF00295743
Bruno Dallapiccola, Pierpaolo Mastroiacovo, Enrico Gandini, Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p Human Genetics. ,vol. 31, pp. 121- 125 ,(1976) , 10.1007/BF00270409
David A. Hungerford, Leukocytes Cultured from Small Inocula of Whole Blood and the Preparation of Metaphase Chromosomes by Treatment with Hypotonic KCL Biotechnic & Histochemistry. ,vol. 40, pp. 333- 338 ,(1965) , 10.3109/10520296509116440
Claudette Hajaj Gonzalez, Annemarie Sommer, Lorraine F. Meisner, B. Rafael Elejalde, John M. Opitz, U. Francke, The trisomy 4p syndrome: case report and review. American Journal of Medical Genetics. ,vol. 1, pp. 137- 156 ,(1977) , 10.1002/AJMG.1320010202
Robin M. Winter, Analysing human developmental abnormalities BioEssays. ,vol. 18, pp. 965- 971 ,(1996) , 10.1002/BIES.950181206
Sanjivan V. Patel, Hirut Dagnew, Aruna J. Parekh, Eli Koenig, Robert A. Conte, Michael J. Macera, Ram S. Verma, Clinical manifestations of trisomy 4p syndrome. European Journal of Pediatrics. ,vol. 154, pp. 425- 431 ,(1995) , 10.1007/BF02029349
Deborah E McFadden, J.M Friedman, Chromosome abnormalities in human beings Mutation Research. ,vol. 396, pp. 129- 140 ,(1997) , 10.1016/S0027-5107(97)00179-6
Marina Seabright, A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMES The Lancet. ,vol. 298, pp. 971- 972 ,(1971) , 10.1016/S0140-6736(71)90287-X