A case of partial trisomy 13 findings with 46, XX, der (7)t(7;13)(p22;q31)mat karyotype

A case of partial trisomy 13 findings with 46, XX, der (7)t(7;13)(p22;q31)mat karyotype

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  • 1. Bonioli E, Crisalli M, Monteverde R, Vianello MG. Karyotype-phenotype correlation in partial trisomy 13. Am J Dis Child 135: 1115-17, 1981. 2. Jones KL. SmithÕs Recognizable Patterns of Human Malformation. WB Saunders. Philadelphia 1988, pp: 20- 25. 3. Jotterand M, Juillard E. A new case of trisomy for the distal part of 13q due to maternal translocation t(9;13)(p21; q21). Hum Genet 33: 213-222, 1976. 4. Giraud F, Mattei JF, Mattei MG. Partial trisomy 13 due to maternal translocation t(2;13). Ann Genet 20: 203-208, 1977. 5. Yanagisawa S, Yokoyama H, Agena N. Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation. Hum Genet 45: 345-350, 1978. 6. Coco R, Del Rey G. Partial trisomy 13q inherited from balanced translocation (15;13)(p14;q13). J Genet Hum 26: 303-310, 1978 (Abstract). 7. Habedank M. Partial trisomy 13q21 to qter de novo due to a recombinant chromosome rec(13)dupq. Hum Genet 52: 91-99, 1979. 8. Jones LA, Taysi K, Strauss AW, Hartmann AF. Partial trisomy 13 as a result of de novo (6p;13q) translocation. Hum Genet 48: 245-249, 1979. 9. Piloard B, Jorgensen E, Knudsen VS, Mortensen E, Mikkelsen M. Familial inversion translocation (8;13) with partial trisomy 13 in several family members. Eur J Pediatr 140: 105-108, 1983. 10. Cohen MM, Schwartz S, Lerner M, Ehrenpreis R, Zalav A, Raffel LJ, Schwartz MF, Lieber E. De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches. Am J Hum Genet (suppl) 37: A109#320, 1985. 11. Fukushima Y, Kondo I. A case of 13q proximal partial trisomy with a breakpoint at 13q14. Am J Hum Genet (suppl) 37: A114#334, 1985. 12. Brocer-Vriends AH, Van de Kamp JJ, Geraedts JP, Bos SSE, Nijenhuis TA. Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22). Clin Genet 27: 487- 495, 1985. 13. Galan F, Garcia R, Aguilar MS, Moya M. Partial trisomy 13q22®qter. A new case. Ann Genet 32: 114-116, 1989 (Abstract). 14. Nicolis J Ivanovic K, Diclic V. Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation. J Med Genet 28: 425-426, 1991. 15. Body PA, Meher EJ, Lindenbaum RH, Hoogwerf AM, Redman C, Croker M. Maternal 3;13 chromosome insertion, with severe pre-eclampsia. Clin Genet 47: 17-21, 1995. 16. Rao VV, Caroenter NJ, Gucsavas M, Coldwell J, Say B. Partial trisomy 13q identified by sequential fluorescence in situ hybridisation. Am J Med Genet 58: 50-53, 1995. 17. Yu J, Wu JM, Lin SJ, Tzeng CC. Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q. Chung Hau Tsa Chih 36: 214- 216, 1995 (Abstract).
Turkish Journal of Medical Sciences-Cover
  • ISSN: 1300-0144
  • Yayın Aralığı: 6
  • Yayıncı: TÜBİTAK
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