• Neonatal Medicine
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• v.17 no.1
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• pp.127-131
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• 2010

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Clinical and Experimental Reproductive Medicine
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• v.21 no.1
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• pp.131-135
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• 1994

A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.3793-3797
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• 2015

Background: Chronic myeloid leukemia (CML) is a myeloproliferative disorder of pluripotent stem cells, caused by reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34;q11), known as the Philadelphia chromosome. Materials and Methods: A total of 51 CML patients were recruited in this study. Complete blood counts of all CML patients were performed to find out their total leukocytes, hemoglobin and platelets. FISH was performed for the detection of BCR-ABL fusion and cryptogenic tests using bone marrow samples were performed for the conformation of Ph (9;22)(q34;q11) and variant translocation mechanisms. Results: In cytogenetic analysis we observed that out of 51 CML patients 40 (88.9%) were Ph positive and 4 (8.88%) had Ph negative chromosomes. Mean values of WBC 134.5 $10^3/{\mu}l$, hemoglobin 10.44 mg/dl, and platelets 288.6 $10^3/{\mu}l$ were observed in this study. Conclusions: In this study, Ph positive translocation between chromosome (9:22)(q34;q11) were observed in 40 (88.9%) CML patients.

• Investigative Magnetic Resonance Imaging
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• v.17 no.1
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• pp.41-46
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• 2013

We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.35-37
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• 2012

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

• The Korean Journal of Pesticide Science
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• v.2 no.1
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• pp.1-11
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• 1998

The generally accepted idea for carbohydrate translocation in plants is an osmotic pressure flow hypothesis. According to the hypothesis, a high concentration of carbohydrate in the phloem of carbohydrate synthesis regions (source) causes a water influx into the phloem. The generated osmotic potential in the phloem is responsible for long distance carbohydrate transport through the positive hydrostatic pressure. In regions of carbohydrate utilization and storage (sink), translocated carbohydrates are continuously metabolized and compartmentalized, generating a concentration gradient between source and sinks. In this system, carbohydrates load into the phloem (phloem loading) and unload out of the phloem (phloem unloading). Phloem-mobile herbicides that are applied to plants are also translocated from the source to sinks. However, some experimental results reveal that the patterns of phloem translocation between carbohydrates and herbicides are different. The differences are due, in part, to the physico-chemical properties of herbicides and to the absence/presence of specific carrier(s) in the phloem.

• Asian-Australasian Journal of Animal Sciences
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• v.12 no.2
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• pp.180-185
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• 1999

Effects of host immunization on bacterial translocation and growth performance in weanling piglets were studied. Twenty four barrows were assigned to one of two immunization treatments: Control group (CON: immunized with placebo) or Immunization group [IMMU: immunized with Antigen cocktail; Keyhole limpet hemocyanin (KLH), Ovalbumin (OA), and Tetanus toxoid (TT)]. On d0, piglets were weaned and intramuscularly immunized with 2 ml of placebo or Antigen cocktail, respectively. Antigen-specific Ig titers were determined by ELISA (Enzyme Linked ImmunoSorbent Assay). Ig titers to E. coli-derived lipopolysaccharides (LPS) were measured as the indicator of bacterial translocation. Ig titers to LPS were higher (p<0.10, 0.05 or 0.01) in CON group before immunization (d0), but the difference disappeared with time and IgA titers to LPS became higher (p<0.05) in IMMU group on d39. In IMMU group, IgG titers to LPS from d28 onwards showed positive correlations (p<0.10, 0.05, 0.01 or 0.001) with IgG titers to KLH from d11 onwards and with IgM titers to KLH from d7 onwards. Generally, growth performance was negatively related to IgG titers to LPS. Average daily gain for d28 to d35 showed negative correlations (p<0.10, 0.05, or 0.01) with IgG titers to LPS on d28 onwards in immunization group. These results reveal some evidences that host immunization might facilitate bacterial translocation and high humoral immune responses to LPS are negatively related with the growth performance.

• Korean Journal of Animal Reproduction
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• v.15 no.2
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• pp.87-95
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• 1991

The chromosome analyses of blood culture were made of 11 Korean native and 53 crossbred males between the Korean native cattles(K) and Charolais(C), which consisted of $K\times$K, $C\times$K, $C\times$CK, CK$\times$CCK and Charolais synthetic males(CK$\times$CCK or CCK$\times$CK). 1. The diploid(2n=60, XY) Charolais synthetic male has the 29 pairs of acrocentric autosomes, a single large submetacentric X and a small metacentric Y chromosome. 2. The numbers of G-band of karyotype in these males were a few differences in the 8 pairs of autosomes(chromosome 2, 4, 5, 6, 9, 11, 19 and 26) compared to those of purebred Korean native ones. G-banding qualities were not matched in chromosome 16, 19 and 29 with the Korean native males and also in chromosome 14, 20 and 22 with other domestic cattles. 3. The G-banding pattern between chromosome 4-6-7 and 24-25-27 was alomost similar together and the possibilityof misidentification was greater in the G-banded preparations. 4. 1/29 Robertsonian translocation and other abnormalities were not observed among 11 Korean native and 53 crossbred males. This result is considered in relation to limited data and further investigation based on larger samples may be necessary for definite conclusion.

• Journal of Microbiology and Biotechnology
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• v.14 no.1
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• pp.128-133
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• 2004

The secretion capacity of two E. coli strains (JM109 and AF1000) was evaluated through the expression of two human proinsulin fusion proteins using the translocation signal sequence from Staphylococcal protein A (SpA). Although a 7 to 11-fold difference in the expression levels was attained by the use of different promoters (SpA and malK promoters) and copy-number vectors (700 and 50 copies per cell), the maximum translocation rates for all the systems were around 140,000 amino acids $cell^{-1} min^{-1}$. Moreover, the secretion capacity was found to be independent of the size of the exiting peptide and its translational rate.