Case of polymalformative syndrome with chromosome translocation t (8q+; 9q-)
Gemme, G.; Vianello, M.G.; Zera, M.; Reboa, E.
Minerva Pediatrica 25(32): 1338-1344
1973
ISSN/ISBN: 0026-4946 PMID: 4772756 Document Number: 69535
Document emailed within 1 workday
Related Documents
Sakazume, S. 2014: Spread of X-chromosome inactivation into chromosome 15 is associated with Prader Willi syndrome phenotype in a boy with a t (X ; 15) (p21.1 ; q11.2) translocation No to Hattatsu 46(2): 121-124Mundhofir, F.E.P.; Kooper, A.J.A.; Winarni, T.I.; Smits, A.P.T.; Faradz, S.M.H.; Hamel, B.C.J. 2010: A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report Genetic Counseling 21(1): 99-108
Verma, R.S.; Dosik, H.; Wexler, I.B. 1977: Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q Journal de Genetique Humaine 25(4): 295-301
Kasahara, S.; Dutrillaux, B. 1983: Chromosome banding patterns of four species of bats, with special reference to a case of X-autosome translocation Annales de Genetique 26(4): 197-201
Dallapiccola, B.; Marino, B.; Giannotti, A.; Valorani, G. 1989: Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature Annales de Genetique 32(2): 92-96
LaForgia, S.; Lasota, J.; Latif, F.; Boghosian-Sell, L.; Kastury, K.; Ohta, M.; Druck, T.; Atchison, L.; Cannizzaro, L.A.; Barnea, G. 1993: Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t(3;8)(p14.2;q24.1) Cancer Research 53(13): 3118-3124
Cavazzuti, G.B.; Gatti, G.; Marazzini, P.M. 1976: Polymalformative syndrome with hypoaldosteronism. Report of 2 cases Minerva Pediatrica 28(21): 1347-1354
Laureys, G.; Speleman, F.; Versteeg, R.; van der Drift, P.; Chan, A.; Leroy, J.; Francke, U.; Opdenakker, G.; Van Roy, N. 1995: Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers Oncogene 10(6): 1087-1093
Pazarbaşi, A.; Demirhan, O.; Turgut, M.; Güzel, I.; Taştemir, D. 2008: Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with down syndrome carrying the same translocation Genetic Counseling 19(3): 301-308
Sayee, R.; Thomas, I.M. 1993: Down syndrome with unusual familial translocation (1;21). A case report Annales de Genetique 36(3): 171-172
Yabe, R.; Mizuno, K.; Ojima, M.; Ogawa, S.; Tani, M.; Niimura, S.; Watari, H.; Kunii, N.; Suenaga, K.; Yatabe, Y. 1987: A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation Journal of Medicine 18(5-6): 333-349
Escobar, J.I.; Koch, M. 1976: Psychiatric aspects of a family with a chromosome translocation Diseases of the Nervous System 37(4): 184-187
Balícek, P.; Jüttnerová, V.; Zizka, J.; Olivková, E. 1987: X chromosome inactivation in 2 cases of X/autosome translocation Casopis Lekaru Ceskych 126(12): 374-377
Hou, J.-W. 2003: Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation Chang Gung Medical Journal 26(1): 48-52
Brownell, E.; Fell, H.P.; Tucker, P.W.; Geurts van Kessel, A.H.; Hagemeijer, A.; Rice, N.R. 1988: Regional localization of the human c-rel locus using translocation chromosome analysis Oncogene 2(5): 527-529
Malpuech, G.; Raynaud, E.J.; Gaulme, J.; Godeneche, P. 1971: Complete deletion of the short arm of chromosome 18 and G-18 translocation with dyschromy and hypothyroidism Archives Francaises de Pediatrie 28(8): 837-846
Savary, J.B.; Lai, J.L.; Monnier, J.C.; Deminatti, M. 1980: Amniocentesis and genetic counseling: apropos of a familial chromosome translocation Lille Medical: Journal de la Faculte de Medecine et de Pharmacie de l'Universite de Lille 25(5): 207-212
Ventruto, V.; Festa, B.; Renda, S.; Stabile, M.; Rinaldi, A.; Rinaldi, M.M.; Cavaliere, M.L.; Lonardo, F.; Garofalo, S. 1983: Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases Pathologica 75 Suppl: 258-261
Hebert, J.; Romana, S.P.; Hillion, J.; Kerkaert, J.P.; Bastard, C.; Berger, R. 1993: Translocation t(3;22)(q27;q11) in non-Hodgkin's malignant lymphoma: chromosome painting and molecular studies Leukemia 7(12): 1971-1974
Fournier, J.P.; Gagnaire, J.C.; Noël, B. 1981: Secondary amenorrhoea and translocation between the X and 1 chromosome. The importance of the place where the break occurs Journal de Gynecologie Obstetrique et biologie de la Reproduction 10(6): 573-578