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Partial trisomy 1q and monosomy 18q due to a de novo t (1;18) (q25;q23)

Solé, M.T.; Rivera, H.; Sánchez-Corona, J.; Plascencia, L.; Cantú, J.M.

Annales de Genetique 26(2): 120-122

1983

ISSN/ISBN: 0003-3995
PMID: 6604487
Document Number: 206106
A two-year-old girl trisomic for the segment 1q25 leads to qter and partially monosomic for band 18q23 as a consequence of a de novo t(1;18)(q25;q23) is reported. Most of the proposita's clinical findings have been described in the 1qter trisomy and some others in the 18q monosomy. This observation is interpreted as additional evidence of epi-, iso-, and hypostatic interactions at the chromosomal level.

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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
Gagnon, J.A.; Richer, C.L.; Lemieux, N.; Gauthier-Chouinard, M. 1984: De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation Annales de Genetique 27(1): 33-37
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
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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
Migliori, V.; Ferrari, F.; Giamagli, C.A.; DI Stefano, P.; Galanti, E.; Guastaferro, N. 1983: A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 5(4): 237-239
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
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
Causio, F.; Fischetto, R.; Carnevale, F.; Pansini, A.; Rocchi, M. 2001: Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication Genetic Counseling 12(2): 145-150
Lazjuk, G.; Zolotukhina, T.; Kirillova, I.; Lurie, I.; Novikova, I.; Abasheva, G. 1987: Prenatal morphology of partial monosomy 18q Zentralblatt für Gynakologie 109(2): 126-129
Laurent, C.; Biemont, M.C.; Veyron, M.; Guilhot, J.; Guibaud, P. 1979: Two new cases of partial monosomy 11q with breakpoint in 11q24 Annales de Genetique 22(4): 239-241
Zaletaev, D.V.; Dadali, E.L. 1986: Syndrome of partial monosomy of the long arm of chromosome 16 Pediatriia 12: 50-52
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
Fraisse, J.; Bertheas, M.F.; Frère, F.; Lauras, B.; Rolland, M.O.; Brizard, C.P. 1981: Partial monosomy 20q: a new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132 Annales de Genetique 24(4): 216-219
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
Mattéi, J.F.; Mattéi, M.G.; Ardissone, J.P.; Charvet, J.P.; Chiaramello, W.; Giraud, F. 1979: Partial trisomy 21 Archives Francaises de Pediatrie 36(4): 404-412