Balanced de novo translocation T(6;7)(p25;q31) and cleft palate as an isolated finding

2004-01-01
Balci, S
Aypar, E
Aydın Son, Yeşim
Beksac, MS
Balanced de novo translocation t(6;7)(p25,q31) and cleft palate as an isolated finding: We report a prenatally diagnosed balanced de novo translocation t(6;7)(p25;q31). Physical examination of the baby born at term revealed only a posterior cleft palate. Laboratory examinations and radiologic investigations were found normal. Two years follow-up of the patient showed her mental and motor development was appropriate with her age. Our report is the first observation on balanced de novo translocation t(6;7)(p25;q31) and cleft palate. Association of this translocation and cleft palate has not been reported previously.
GENETIC COUNSELING

Suggestions

SYNTHESIS AND CHARACTERIZATION OF POLY(DICHLOROPHENYLENE OXIDE)S THROUGH SOLID-STATE THERMAL-DECOMPOSITION OF BIS(PYRIDINE)BIS(TRICHLOROPHENOXO)COPPER(II) COMPLEXES
BASTURKMEN, M; KISAKUREK, D (Elsevier BV, 1993-01-01)
Thermal polymerization of bis(pyridine)bis(trichlorophenoxo)copper(II) was achieved in the solid state for the first time. The time and temperature effect on polymer molecular weight, percentage yield and the structure of polymer was first studied, at constant temperature and then for constant decomposition time. Polymers were characterized by i.r., H-1 n.m.r. and C-13 n.m.r. The molecular weights of the polymers were obtained by viscometric measurements at 30-degrees-C in toluene and glass transition tempe...
Synthesis and characterization of poly(dihalophenylene oxides) by thermal decomposition of copper complexes with tetramethylethylenediamine and ethylenediamine ligands
Ünal, H. Ibrahim; Kısakürek, Duygu; Şanlı, Oya (Elsevier BV, 1989-2)
Thermal polymerization of bis(trihalophenoxo)-N,N,N′,N′-tetramethylethylenediamine copper(ii) and bis(trihalophenoxo)ethylenediamine copper(ii) was achieved in toluene at 70°C. The dependences of intrinsic viscosity and the percentage yield of the polymers on a sequence of increasing decomposition times of copper complexes were investigated. Structural analyses of the polymers were carried out using mainly1H nuclear magnetic resonance spectroscopy and differential scanning calorimetry. 1,4-Catenation was hi...
DISPLACEMENT KINETICS OF 1,5-CYCLOOCTADIENE FROM MO(CO)4(ETA(2-2)-1,5-CYCLOOCTADIENE) BY BIS(DIPHENYLPHOSPHINO)METHANE
TEKKAYA, A; KAYRAN, C; Özkar, Saim; KREITER, CG (American Chemical Society (ACS), 1994-05-25)
The kinetics of the thermal substitution of 1,5-cyclooctadiene (COD) from [Mo(CO)4(eta2:2-COD)] (1) by bis-(diphenylphosphino)methane (DPPM) and the formation of [Mo(CO)4(DPPM)] (6) was studied by quantitative FT-IR spectroscopy. The reaction rate exhibits first-order dependence on the concentration of 1, and the observed rate constant, k(obs), depends on the concentrations of both leaving COD and entering DPPM ligand. From the evaluation of data collected, one can propose a mechanism in which the rate-dete...
Identification of gene mutations ınvolved in drug resistance in liver cancer using rna-seq data analysis
Shojeai, Mona; Akhan, Ece; Acar, Aybar Can; Atalay, Rengül (null; 2017-06-28)
Cancer is the leading cause of death worldwide and the risk increases with aging. A significant concern in cancer research is the detection of cancer drug resistance associated somatic mutations. According to Global Cancer Statistics (GCS) liver cancer is the 5th most common and 2nd deadliest cancer in the world. Over the past two decades, the death rate for liver cancer increased by 2.5% per year and incidents were 3 times higher in men than in women (American Cancer ...
Unintuitive Inverse Dependence of the Apparent Turnover Frequency on Precatalyst Concentration: A Quantitative Explanation in the Case of Ziegler-Type Nanoparticle Catalysts Made from [(1,5-COD)Ir(mu-O2C8H15)](2) and AlEt3
Crooks, Adam B.; Yih, Kuang-Hway; Li, Long; Yang, Judith C.; Özkar, Saim; Finke, Richard G. (2015-06-01)
The Ziegler-type hydrogenation precatalyst dimer, [(1,5-COD)Ir(mu-O2C8H15)](2) (1,5-COD = 1,5-cyclooctadiene; O2C8H15 = 2-ethylhexanoate) plus added AlEt3 stabilizer has recently been shown to form AlEt3-stabilized, Ziegler-type Ir(0)(similar to 4-15) nanoparticles initially, which then grow to larger Ziegler-type Ir(0)(similar to 40-50) nanoparticles during the catalytic hydrogenation of cyclohexene (Alley, W. M.; Hamdemir, I. K.; Wang, Q.; Frenkel, A. I.; Li, L.; Yang, J. C.; Menard, L. D.; Nuzzo, R. G.; ...
Citation Formats
S. Balci, E. Aypar, Y. Aydın Son, and M. Beksac, “Balanced de novo translocation T(6;7)(p25;q31) and cleft palate as an isolated finding,” GENETIC COUNSELING, pp. 317–320, 2004, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/69420.