A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome
Migliori, V.; Ferrari, F.; Giamagli, C.A.; DI Stefano, P.; Galanti, E.; Guastaferro, N.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 5(4): 237-239
1983
ISSN/ISBN: 0391-5387 PMID: 6647087 Document Number: 220263
A new case of chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome is reported in a girl born to a mother carrier of a pericentric inversion inv (3) (p25 q21). The patient shows several clinical features that can be well superimposed to those previously described.
Document emailed within 1 workday
Related Documents
Chen, 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): 81-85Lukusa, T.; Devriendt, K.; Fryns, J.P. 1999: A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter) Annales de Genetique 42(2): 91-94
Nielsen, J.; Homma, A.; Christiansen, F.; Rasmussen, K.; Saldsña-Garcia, P. 1977: A case of 46,X,t(X;X)(pter to q27::q27 to pter)/47,X,t(X;X) (pter to q27::q27 to pter), + mar/48,XX,t(X;X)(pter to q27::q27 to pter), + mar and a functionally monocentric translocation X Annales de Genetique 20(2): 119-121
Redha, M.A.; Krishna Murthy, D.S.; al-Awadi, S.A.; al-Sulaiman, I.S.; Sabry, M.A.; el-Bahey, S.A.; Farag, T.I. 1996: De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome? Annales de Genetique 39(1): 5-9
Ganguly, B.B.; Dalvi, R.; Mehta, A.V. 2001: Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria Cytobios 106(411): 63-70
Smith, A.; Den Dulk, G.; Lipson, A.; Suter, M. 1989: Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11 Annales de Genetique 32(1): 39-42
Tschernigg, M.; Petek, E.; Leonhardtsberger, A.; Wagner, K.; Kroisel, P.M. 2002: Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13) Genetic Counseling 13(3): 303-307
Campos Tristán, C.; Verdú Pérez, A. 1989: Partial trisomy 14 and monosomy 21. Report of a case Anales Espanoles de Pediatria 31(1): 81-82
Andrle, M.; Erlach, A.; Schweizer, C. 1987: Inversion 8 and consecutive trisomy of region 8q22----qter Wiener Klinische Wochenschrift 99(18): 638-641
Cetin, Z.; Mihci, E.; Keser, I.; Luleci, G. 2012: Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13) Genetic Counseling 23(2): 207-214
Say, B.; Guzoglu, N.; Uras, N.; Candemir, Z.; Akin, I.; Dilmen, U. 2013: Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report Genetic Counseling 24(4): 387-391
Ergun, M.A.; Balci, S.; Konaç, E.; Kan, D.; Menevşe, S.; Bartsch, O. 2004: Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies Turkish Journal of Pediatrics 46(4): 384-387
Lucas, J.; Le Mée, F.; Picard, F.; Le Marec, B.; Junien, C. 1983: Pure trisomy 13q13-qter caused by aneusomic recombination of a maternal pericentric inversion Annales de Genetique 26(3): 187-190
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): 120-122
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
Wang, C.B.; Lin, S.P.; Chen, C.P.; Chen, Y.J.; Lee, C.C. 2006: An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature Genetic Counseling 17(4): 435-440
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
Epstein, C.J.; Weil, J.; Epstein, L.B. 1987: Abnormalities in the interferon response and immune systems in down syndrome: studies in human trisomy 21 and mouse trisomy 16 Progress in Clinical and Biological Research 246: 191-208
Morosini, P.; Verdura, C.; Paolillo, F.; Fornari, M.; Argentiero, M.L.; Belloni, C. 1992: Trisomy 18 (Edwards syndrome): two case reports La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 14(1): 75-77