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Journal Abstract Search
525 related items for PubMed ID: 599332
1. Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q. Verma RS, Dosik H, Wexler IB. J Genet Hum; 1977 Dec; 25(4):295-301. PubMed ID: 599332 [Abstract] [Full Text] [Related]
2. Partial trisomy 13q inherited from balanced translocation (5;13) (p14;q13). Coco R, del Rey G. J Genet Hum; 1978 Dec; 26(4):303-10. PubMed ID: 752064 [Abstract] [Full Text] [Related]
3. Partial trisomy 13 due to maternal translocation t(7;13)(p22q14). Martin-Lucas MA, Pérez-Castillo A, Abrisqueta JA, de Torres ML, Martin-Sempere MJ, Del Mazo J, Aller V. Ann Genet; 1982 Dec; 25(3):172-8. PubMed ID: 6982670 [Abstract] [Full Text] [Related]
4. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K. Jinrui Idengaku Zasshi; 1991 Sep; 36(3):257-65. PubMed ID: 1753439 [Abstract] [Full Text] [Related]
5. Familial robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21. Mau UA, Petruch UR, Kaiser P, Eggermann T. Eur J Hum Genet; 2000 Nov; 8(11):815-9. PubMed ID: 11093270 [Abstract] [Full Text] [Related]
6. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. Lukusa T, van den Berghe L, Smeets E, Fryns JP. Ann Genet; 1999 Nov; 42(4):215-20. PubMed ID: 10674161 [Abstract] [Full Text] [Related]
7. Origin of a paternal (13q;15q) translocation leading to dup(13q) in two half sibs. De los Cobos LF. Am J Med Genet; 1983 Apr; 14(4):617-23. PubMed ID: 6846396 [Abstract] [Full Text] [Related]
8. Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother. Fujimoto A, Lin MS, Korula SR, Wilson MG. Am J Med Genet; 1985 Oct; 22(2):333-42. PubMed ID: 4050866 [Abstract] [Full Text] [Related]
10. Two unbalanced segregation products due to a maternal t(7;16)inv(16). Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM. Prenat Diagn; 2001 Jul; 21(7):550-2. PubMed ID: 11494289 [Abstract] [Full Text] [Related]
12. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR. Ann Genet; 2004 Jul; 47(3):297-303. PubMed ID: 15337476 [Abstract] [Full Text] [Related]
13. A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion. Sgardioli IC, Simioni M, Viguetti-Campos NL, Prota JR, Gil-da-Silva-Lopes VL. Gene; 2013 Jul 10; 523(2):192-4. PubMed ID: 23566844 [Abstract] [Full Text] [Related]
15. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I. Eur J Med Genet; 2005 Jul 10; 48(2):159-66. PubMed ID: 16053907 [Abstract] [Full Text] [Related]
16. [Duplication of the long arm of chromosome 3 (dup 3q) in a newborn infant whose the father is carrier of pericentric inversion of chromosome 9]. Ayral D, Raudrant D, Charleux JP, Noel B. Pediatrie; 1984 Dec 10; 39(8):681-90. PubMed ID: 6598632 [Abstract] [Full Text] [Related]
18. [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl)]. Pescia G, Jotterand-Bellomo M, de Crousaz H, Payot M, Martin D. Ann Genet; 1979 Dec 10; 22(3):158-62. PubMed ID: 316672 [Abstract] [Full Text] [Related]
19. Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus. Lurie IW, Gurevich DB, Binkert F, Schinzel A. Clin Dysmorphol; 1995 Jan 10; 4(1):25-32. PubMed ID: 7735502 [Abstract] [Full Text] [Related]
20. A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype. Tatar A, Oztas S, Yakut T, Ors R. Genet Couns; 2005 Jan 10; 16(2):173-7. PubMed ID: 16080298 [Abstract] [Full Text] [Related] Page: [Next] [New Search]