Results 61 to 70 of about 43,138 (187)

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation [PDF]

, 2021
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1.
Barbara Herr, Birgitta Gläser, Tzschach, Andreas, Katalin Komlosi, Judith Fischer, Ekkehart Lausch, Dremsek, Paul, Andreas Tzschach, Herr, Barbara, Thomas Schwarz, Gläser, Birgitta, Schwarz, Thomas, Anna Clara Schnause, Sabine Jägle, Komlosi, Katalin, Schnause, Anna Clara, Neesen, Juergen, Lausch, Ekkehart, Paul Dremsek, Fischer, Judith, Jürgen Neesen, Jägle, Sabine   +21 more
core   +1 more source

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family

Molecular Cytogenetics, 2018
Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes.
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Using short read sequencing to characterise balanced reciprocal translocations in pigs

BMC Genomics, 2020
Background A balanced constitutional reciprocal translocation (RT) is a mutual exchange of terminal segments of two non-homologous chromosomes without any loss or gain of DNA in germline cells.
Aniek C. Bouwman, Martijn F. L. Derks, Marleen L. W. J. Broekhuijse, Barbara Harlizius, Roel F. Veerkamp   +4 more
doaj   +1 more source

Chromosome segregation analysis in human embryos obtained from couples involving male carriers of reciprocal or Robertsonian translocation. [PDF]

PLoS ONE, 2012
The objective of this study was to investigate the frequency and type of chromosome segregation patterns in cleavage stage embryos obtained from male carriers of Robertsonian (ROB) and reciprocal (REC) translocations undergoing preimplantation genetic ...
Ahmet Yilmaz, Xiao Yun Zhang, Jin-Tae Chung, Seang Lin Tan, Hananel Holzer, Asangla Ao   +5 more
doaj   +1 more source

A New Approach for Accurate Detection of Chromosome Rearrangements That Affect Fertility in Cattle

Animals, 2020
Globally, cattle production has more than doubled since the 1960s, with widespread use of artificial insemination (AI) and an emphasis on a small pool of high genetic merit animals.
Rebecca L. Jennings, Darren K. Griffin, Rebecca E. O’Connor   +2 more
doaj   +1 more source

Image_3_Suppressed Recombination of Sex Chromosomes Is Not Caused by Chromosomal Reciprocal Translocation in Spiny Frog (Quasipaa boulengeri).PDF [PDF]

, 2018
Chromosome rearrangements (CRs) are perceived to be related to sex chromosome evolution, but it is a matter of controversy whether CRs are the initial causative mechanism of suppressed recombination for sex differentiation.
Xiaomao Zeng (129585), Xiuyun Yuan (770159), Yun Xia (129577)   +2 more
core   +1 more source

Table_1_Suppressed Recombination of Sex Chromosomes Is Not Caused by Chromosomal Reciprocal Translocation in Spiny Frog (Quasipaa boulengeri).XLSX [PDF]

, 2018
Chromosome rearrangements (CRs) are perceived to be related to sex chromosome evolution, but it is a matter of controversy whether CRs are the initial causative mechanism of suppressed recombination for sex differentiation.
Xiaomao Zeng (129585), Xiuyun Yuan (770159), Yun Xia (129577)   +2 more
core   +1 more source

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Balkan Journal of Medical Genetics, 2013
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 ...
Vasilevska M., Ivanovska E., Kubelka Sabit K., Sukarova-Angelovska E., Dimeska G.   +4 more
doaj   +1 more source

A new and unusual reciprocal translocation in cattle : rcp(11;25)(q11;q14-21) [PDF]

, 2011
A new and unusual reciprocal translocation was detected in a heifer of the Agerolese cattle breed during a routine cytogenetic screening carried out on 13 animals (2 males and 11 females) kept at the ConSDABI Conservation Center in Benevento (Southern ...
A. Iannuzzi, V. Genualdo, D. Matassino, V. Peretti, G.P. Di Meo, A. Perucatti, G. P. Di Meo, D. Di Berardino, L. Iannuzzi, L. De Lorenzi, P. Parma   +10 more
core   +3 more sources

Table_2_Suppressed Recombination of Sex Chromosomes Is Not Caused by Chromosomal Reciprocal Translocation in Spiny Frog (Quasipaa boulengeri).DOC [PDF]

, 2018
Chromosome rearrangements (CRs) are perceived to be related to sex chromosome evolution, but it is a matter of controversy whether CRs are the initial causative mechanism of suppressed recombination for sex differentiation.
Xiaomao Zeng (129585), Xiuyun Yuan (770159), Yun Xia (129577)   +2 more
core   +1 more source