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Relevant bibliographies by topics / Chromosome balanced translocation

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Journal articles

Academic literature on the topic 'Chromosome balanced translocation'

Author: Grafiati

Published: 9 September 2021

Last updated: 10 February 2022

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Journal articles on the topic "Chromosome balanced translocation"

1

Wang, B., B. Nie, D. Tang, et al. "Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations." Balkan Journal of Medical Genetics 20, no. 1 (2017): 43–50. http://dx.doi.org/10.1515/bjmg-2017-0003.

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Abstract The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 2

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2

Ren, Tianheng, Zhi Li, Benju Yan, et al. "De novo balanced complex chromosome rearrangements involving chromosomes 1B and 3B of wheat and 1R of rye." Genome 59, no. 12 (2016): 1076–84. http://dx.doi.org/10.1139/gen-2016-0112.

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Complex chromosome rearrangements (CCRs) are defined as structural abnormalities involving more than two chromosome breaks, coupled with exchanges of chromosomal segments. Information on CCRs in plants is limited. In the present study, a plant (26-4) harboring translocation chromosomes 1RS.1BL and 4RS.4DL was selected from a double monosomic (1R and 4R) addition line, which was derived from the hybrid between wheat cultivar MY11 and a Chinese local rye variety. The genome of the plant with double alien translocation chromosomes in the monosomic form showed more instability than that harboring

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3

Uysal, A., A. Uludağ, F. Sılan, N. Erçelen, C. Zafer, and Ö. Özdemir. "Double Translocation: An Interesting Family History." Balkan Journal of Medical Genetics 16, no. 1 (2013): 77–80. http://dx.doi.org/10.2478/bjmg-2013-0022.

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Abstract Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromosome analysis indicated that the male partner’s karyotype was 45,XY, t(3;18)(q11;ptel)t(13;14)(q10;q10). The same double balanced translocation was found in two others family members.

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4

Atli, Eİ, H. Gurkan, E. Atli, H. Tozkir, GF Varol, and C. İnan. "Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)." Balkan Journal of Medical Genetics 21, no. 2 (2018): 69–72. http://dx.doi.org/10.2478/bjmg-2018-0020.

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Abstract The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization

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5

Ganguly, Bani Bandana, Vijay Kadam, and Nitin N. Kadam. "Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6." Case Reports in Genetics 2011 (2011): 1–6. http://dx.doi.org/10.1155/2011/396450.

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Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromo

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6

Vasilevska, M., E. Ivanovska, K. Kubelka Sabit, E. Sukarova-Angelovska, and G. Dimeska. "THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA." Balkan Journal of Medical Genetics 16, no. 2 (2013): 23–28. http://dx.doi.org/10.2478/bjmg-2013-0027.

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ABSTRACT Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The overall frequency of all translocations was 0.42%. Balanced state translocations were 0.29% and t

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7

Shams, Foyez, Darryl D’Souza, and Tariq Ezaz. "Balanced Chromosomal Rearrangements Associated with Hypoprolificacy in Australian Boars (Sus scrofa domesticus)." Cells 10, no. 8 (2021): 2000. http://dx.doi.org/10.3390/cells10082000.

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Balanced chromosomal rearrangements, mainly reciprocal translocations, are considered to be the causative agent of several clinical conditions in farmed pigs, resulting in hypoprolificacy and economic losses. Literature suggests that reciprocal translocations are heritable and can occur de novo. The prevalence rate of these balanced structural rearrangements of chromosomes differs from country to country and varies between 0.5% and 3.3%. The Australian pig population is descendent of a small founder population and has since been a closed genetic group since the 1980s. Hence, any incident of re

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8

Tulay, P., M. Gultomruk, N. Findikli, and M. Bahceci. "Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics?" Zygote 23, no. 5 (2014): 778–84. http://dx.doi.org/10.1017/s0967199414000422.

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SummaryBalanced reciprocal translocation carriers are usually phenotypically normal. Although the reproductive risk of these carriers varies, they generally have a lower chance to produce normal or balanced gametes. Preimplantation genetic diagnosis (PGD) is offered to these patients to increase their chances of becoming pregnant by selecting a balanced embryo for transfer. This study aimed to analyse the development and the PGD outcome of the embryos obtained from reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements. In total, 27 reciprocal translocation carrie

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9

Posam, Pratibha Gopal, and Dr Anjali Satyen Sabnis. "A CASE REPORT ON MATERNAL t (1;2) (q11; p11.1) AND ITS INHERITANCE." International Journal of Research -GRANTHAALAYAH 9, no. 4 (2021): 216–20. http://dx.doi.org/10.29121/granthaalayah.v9.i4.2021.3848.

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Balanced translocation in one of the partners may form faulty gametes and so it may be associated with infertility or recurrent miscarriages. Although, if same balanced translocation gets inherited then it gives rise to normal child. We report a case of non-consanguineous couple with the history of spontaneous abortion with bilateral dysplastic kidney in the foetus. Karyotyping of husband was normal and wife showed autosomal balanced translocation between q arm (11) of chromosome 1 and p arm (11.1) of chromosome 2. After doing genetic counselling for prenatal diagnosis, couple underwent prenat

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10

Verlinsky, O. Y., J. V. Gontar, N. I. Kazachkova, Y. V. Laxhno, I. E. Ilyin, and O. M. Fedota. "Analysis of the embryos genetic characteristics and methodologies of human translocations research." Faktori eksperimental'noi evolucii organizmiv 27 (September 1, 2020): 190–95. http://dx.doi.org/10.7124/feeo.v27.1325.

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Aim. Assessment of the embryos genetic characteristics from translocation carriers and analysis of the translocation research methodology. Methods. The chromosome structure was analyzed using classical cytogenetics methods, GTG, FISH. Preimplantation genetic testing to identify structural rearrangements of the embryos chromosomes was performed on trophectoderm cells using NGS and FISH methods. Results. The proportion of translocation carriers in the sample of patients with reproductive disorders (n = 6156) was 1.1 %, with 0.4 % – for Robertson translations and 0.8 % for reciprocal ones. 5-day-

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