De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation
Gagnon, J.A.; Richer, C.L.; Lemieux, N.; Gauthier-Chouinard, M.
Annales de Genetique 27(1): 33-37
1984
ISSN/ISBN: 0003-3995 PMID: 6609670 Document Number: 231262
A child with trisomy 1q24----qter is described. This syndrome is compared to other 1q partial trisomies. An association is proposed between these trisomic segments and the following phenotypic signs: microphtalmia, trigonocephaly, hypertrichosis, antimongoloid eye slants, anomalies of the biliary tract, and malformations of the central nervous system.
Document emailed within 1 workday
Related Documents
Solé, M.T.; Rivera, H.; Sánchez-Corona, J.; Plascencia, L.; Cantú, J.M. 1983: Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23) Annales de Genetique 26(2): 120-122Chen, C.P.; Lin, S.P.; Chern, S.R.; Lee, C.C.; Chen, L.F.; Chen, Y.J.; Wang, W. 2006: Molecular cytogenetic analysis of de novo partial monosomy 4p (4p16.2-->pter) and partial trisomy 8p (8p23.2-->pter) Genetic Counseling 17(1): 81-85
Madokoro, H.; Ohdo, S.; Sonoda, T.; Kawaguchi, K.; Ohba, K. 1988: Partial trisomy for 19q due to paternal 17/19 reciprocal translocation Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 33(1): 61-65
Bofinger, M.K.; Soukup, S.W. 1977: Cat eye syndrome. Partial trisomy 22 due to translocation in the mother American Journal of Diseases of Children 131(8): 893-897
el-Shanti, H.; Khasawneh, M.; Hulsberg, D.; Major, H.; Patil, S. 1997: A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype Annales de Genetique 40(3): 175-180
Tüysüz, B.; Hacihanefioglu, S.; Silahtaroglu, A.; Yilmaz, S.; Deviren, A.; Cenani, A. 2000: Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation Genetic Counseling 11(4): 355-361
Karcaaltincaba, D.; Ceylaner, S.; Ceylaner, G.; Dalkilic, S.; Karli-Oguz, K.; Kandemir, O. 2010: Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies Genetic Counseling 21(1): 19-24
Kleczkowska, A.; Decock, P.; van den Berghe, H.; Fryns, J.P. 1994: Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3) Genetic Counseling 5(4): 393-397
Paoloni-Giacobino, A.; Bottani, A.; Dahoun, S.P. 1999: Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation Annales de Genetique 42(3): 166-169
Rosenmann, A.; Isacson, M.; Cohen, R.; Segal, M.; Cohen, M.M. 1978: Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11) Annales de Genetique 21(1): 60-64
Cetin, Z.; Mihci, E.; Keser, I.; Karaali, K.; Berker, S.; Luleci, G. 2012: Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation Genetic Counseling 23(2): 239-247
Witters, I.; Moerman, P.; Fryns, J.P. 2002: Maternal serum positive triple test screening in a fetus with partial distal trisomy 7p associated with maternal 7p;18p translocation Genetic Counseling 13(1): 65-68
Chessa, L.; Vignetti, P.; Ferrante, E.; Dallapiccola, B. 1979: Trisomy 10p due to t(Y;10)(p11; p11) "de novo" Pathologica 71(1013): 353-354
Engelen, J.J.M.; De Die-Smulders, C.E.M.; Back, E. 2002: De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES Genetic Counseling 13(3): 359-361
Emberger, J.M.; Nègre, C.; Lafon, R. 1972: Mosaic trisomy 13 with isochromosome: 46, XX-46, XX, 13-, 13 q: Annales de Genetique 15(2): 111-114
Hurgoiu, V.; Giurgiuman, M.; Nicoară, Z.; Adam, M. 1984: Mosaic trisomy 18 associated with Jeune syndrome Revista de Pediatrie Obstetrica Si Ginecologie. Pediatria 33(1): 79-83
Mino, M.; Kasubuchi, Y.; Goto, M.; Onouchi, Z.; Kusunoki, T. 1976: Chromosome 8 trisomy mosaic syndrome Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 21(2): 69-78
Turleau, C.; Grouchy, J.; Bocquentin, F.; Roubin, M.; Colin, F.C. 1975: Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21) Annales de Genetique 18(1): 41-44
Ausems, M.G.; Van Spijker, H.G.; Dijkhuis, H.J.; Swanenburg De Veye, H.F.; Bijlsma, J.B. 1996: Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development Genetic Counseling 7(1): 61-65
Aydin, B.; Dilli, D.; Beken, S.; Zenciroglu, A.; Uzunalic, N.; Yuksekkaya, P.; Akyuz, S.G.; Aydog, O.; Okumus, N. 2013: Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26) Genetic Counseling 24(2): 201-205