Distal trisomy 14q due to tandem duplication (q24 leads to q32)
Orye, E.; Van Bever, H.; Desimpel, H.
Annales de Genetique 26(4): 238-239
1983
ISSN/ISBN: 0003-3995 PMID: 6607705 Document Number: 215462
An elongated long arm of chromosome 14 was found in a male child. GTG-banding analysis indicated a tandem duplication (q24 leads to q32). The child showed several congenital anomalies in common with the ten cases of distal trisomy 14q, known at present.
Document emailed within 1 workday
Related Documents
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): 145-150Tschernigg, 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
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
Rojas-Martinez, A.; Garcia-Cruz, D.; Medina, C.; Moller, M.; Restrepo, C.M.; Rivera, H. 1990: Tandem duplication of proximal 5q Annales de Genetique 33(4): 228-230
Ito, M.; Mutoh, K.; Okuno, T.; Mikawa, H.; Edagawa, J.; Abe, T. 1983: De novo tandem duplication of the middle segment of the long arm of chromosome 14 Annales de Genetique 26(2): 116-119
Francke, U.; Weber, F.; Sparkes, R.S.; Mattson, P.D.; Mann, J. 1977: Duplication 11 (q21 to 23 leads to qter) syndrome Birth Defects Original Article Series 13(3b): 167-186
Sukhodolets, V.V.; Botina, S.G.; Trenina, M.A.; Ukhabotina, L.S. 2001: Homologous recombination and chromosomal rearrangements in Escherichia coli strains carrying a heterozygous tandem duplication Genetika 37(5): 591-601
Neu, R.L.; Gallien, J.U.; Steinberg-Warren, N.; Wynn, R.J.; Bannerman, R.M. 1981: An infant with trisomy 6q21 leads to 6qter Annales de Genetique 24(3): 167-169
Sukhodolets, V.V. 1998: Further genetic study of tandem duplication formation in the region of the deo operon in the process of Escherichia coli K-12 conjugational recombination Genetika 34(10): 1338-1344
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
Sukhodolets, V.V. 1999: Formation of the heterozygous tandem duplication in the process of conjugation recombination in Escherichia coli: study of the effect of mutations for the recQ, uvrD, and recJ genes Genetika 35(4): 450-458
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
Velasco, F.; Clusellas, N.; Godo, R.M.; Antich, J. 1984: Distal trisomy 14q caused by a paternal translocation (6;14) Anales Espanoles de Pediatria 21(7): 681-687
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
Lurie, I.W. 2015: Choanal Atresia and Hirschsprung's Disease Are "legitimate" Traits of Distal Trisomy 4q Genetic Counseling 26(4): 447-449
Fankhauser, G.; Froelicher, P.; Maurer, W. 1991: Femoropopliteal venous bypass in distal duplication of the great saphenous vein with bridge veins. Case report Helvetica Chirurgica Acta 58(1-2): 173-176
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
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
Gan, H-Li.; Zhang, J-Qun. 2008: A special type of endovascular stent repair with complicated thoracic aneurysm and chronic type B dissection aligned in tandem: double perfusion in true and false distal aorta lumen Chinese Medical Journal 121(15): 1484-1486
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