scholarly journals Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10)

2004 ◽  
Vol 19 (6) ◽  
pp. 1345-1351 ◽  
Author(s):  
E. Anton
Keyword(s):  
Robertsonian Translocation ◽  
Sperm Fish ◽  
Male Carriers

scholarly journals Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

2017 ◽  
Vol 20 (1) ◽  
pp. 43-50 ◽  
Author(s):  
B Wang ◽  
B Nie ◽  
D Tang ◽  
R Li ◽  
X Liu ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Sex Chromosome ◽  
Chromosome Rearrangement ◽  
Chromosome 18 ◽  
Robertsonian Translocations ◽  
Increased Risk ◽  
Male Patients ◽  
Male Carriers ◽  
Unusual Type

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, 22, 18, X and Y in sperm. Among the heterozygous ROB translocation carriers, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. Increased frequencies of aneuploidy for a sex chromosome were found in 10 ROB translocation carriers (P2-P8, P10-P12). Increased frequencies of aneuploidy for chromosome 18 were found in10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Among the homozygous ROB translocation carriers, the rate of balanced spermatozoa was 99.7% and the frequency of unbalanced spermatozoa was 0.3%. However, the frequencies of aneuploidy for a sex chromosome and chromosome 18 were normal. Despite the high number of normal/balanced frequencies, there remained many unbalanced spermatozoa resulting from alternate segregation. The ROB translocation carriers may be at an increased risk for ICE. Robertsonian translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes.

P15 Sperm-FISH analysis revealed normal sperm cells for 14;14 homologous robertsonian translocation in a male carrier: A case report

2010 ◽  
Vol 20 ◽  
pp. S27-S28
Author(s):  
Ç. Çinar ◽  
Ç. Beyazyürek ◽  
C.G. Ekmekçi ◽  
Ç. Aslan ◽  
M. Yeşil ◽  
...  
Keyword(s):  
Case Report ◽  
Robertsonian Translocation ◽  
Sperm Cells ◽  
Fish Analysis ◽  
Normal Sperm ◽  
Sperm Fish ◽  
Male Carrier

scholarly journals The Influence of Sex on Embryo Development and Pregnancy Outcome in Preimplantation Genetic Testing for Chromosomal Translocation

2021 ◽  
Author(s):  
Yile Zhang ◽  
Hui Song ◽  
Jing-di Li ◽  
Zhi-qin Bu ◽  
Fang Wang ◽  
...  
Keyword(s):  
Pregnancy Outcome ◽  
Reciprocal Translocation ◽  
Robertsonian Translocation ◽  
Formation Rate ◽  
Parental Age ◽  
Blastocyst Formation ◽  
Preimplantation Genetic Testing ◽  
Male Carriers ◽  
In Pregnancy ◽  
Female Carriers

Abstract Background To investigate the embryonic development and clinical pregnancy outcome of reciprocal translocation carriers and Robertsonian translocation carriers with different sex in preimplantation genetic testing (PGT). Methods A retrospective analysis of 1369 cycles of preimplantation genetic testing for structural rearrangements (PGT-SR) was performed in the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from 2015 to 2019. All the patients were divided into reciprocal translocation and Robertsonian translocation according to the type of chromosomal translocation and divided into female carriers and male carriers according to the sex of the carriers. SPSS21.0 was used for data statistics and P < 0.05 indicated that the difference was statistically significant. Results The fertilization rate of female carriers(81.5%) with chromosomal structural abnormalities (including reciprocal translocation and Robertsonian translocation) was higher than that of male carriers(80.0%)(P=0.032), and the blastocyst formation rate of female carriers(50.0%) was lower than that of male carriers(54.8%)(P=0.016) in the same parental age. But there was no statistical difference in cleavage rate, high quality embryo rate, normal rate of biopsy, clinical pregnancy rate, abortion rate and live birth rate between female and male carriers. In the reciprocal translocation group, the blastocyst formation rate of male carriers (54.8%) was higher than that of female carriers (50.0%) (P=0.022) with the same parental age and there was no difference in pregnancy outcome. In the Robertsonian translocation group, the fertilization rate of male carriers (75.0%) was lower than that of female carriers (81.8%) (P=0.005) and the normal rate of biopsy (33.3%) was higher than that of female carriers (25.0%) (P=0.022) with the same parental age and there was no difference in pregnancy outcome. Conclusions In reciprocal translocation, male carriers have a higher rate of blastocyst formation rate than female carriers. In Robertsonianian translocation, male carriers have a higher noamal rate of biopsy than female carriers. However, there was no significant difference in pregnancy outcome between male carriers and female carriers with abnormal chromosome structure.

Robertsonian Translocation in an Oligozoospermic Male Carrier: Sperm FISH Study, ART Strategy and Genetic Counselling

2000 ◽  
Vol 74 (3) ◽  
pp. S114
Author(s):  
M Bergère ◽  
M Albert ◽  
L Allard ◽  
R Lombroso ◽  
Y Ville ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Robertsonian Translocation ◽  
Sperm Fish ◽  
Male Carrier

Meiotic Segregation of Rare Robertsonian Translocations: Sperm FISH Studies in Male Carriers

2005 ◽  
Vol 84 ◽  
pp. S412
Author(s):  
F. Pellestor ◽  
K. Moradkani ◽  
J. Puechberty ◽  
T. Anahory ◽  
P. Sarda ◽  
...  
Keyword(s):  
Meiotic Segregation ◽  
Robertsonian Translocations ◽  
Sperm Fish ◽  
Male Carriers

scholarly journals Chromosome Segregation Analysis in Human Embryos Obtained from Couples Involving Male Carriers of Reciprocal or Robertsonian Translocation

PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e46046 ◽  
Author(s):  
Ahmet Yilmaz ◽  
Xiao Yun Zhang ◽  
Jin-Tae Chung ◽  
Seang Lin Tan ◽  
Hananel Holzer ◽  
...  
Keyword(s):  
Chromosome Segregation ◽  
Robertsonian Translocation ◽  
Segregation Analysis ◽  
Human Embryos ◽  
Male Carriers

scholarly journals Molecular Analysis of Nondisjunction in Mice Heterozygous for a Robertsonian Translocation

Genetics ◽  
2002 ◽  
Vol 161 (3) ◽  
pp. 1219-1224
Author(s):  
Lara A Underkoffler ◽  
Laura E Mitchell ◽  
A Russell Localio ◽  
Shannon M Marchegiani ◽  
Justin Morabito ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Robertsonian Translocation ◽  
Metacentric Chromosome ◽  
Paternal Age ◽  
Chromosome 7 ◽  
Parental Origin ◽  
Molecular Genotyping ◽  
Factors Influencing ◽  
Meiotic Nondisjunction ◽  
Acrocentric Chromosomes

Abstract A Robertsonian translocation results in a metacentric chromosome produced by the fusion of two acrocentric chromosomes. Rb heterozygous mice frequently generate aneuploid gametes and embryos, providing a good model for studying meiotic nondisjunction. We intercrossed mice heterozygous for a (7.18) Robertsonian translocation and performed molecular genotyping of 1812 embryos from 364 litters with known parental origin, strain, and age. Nondisjunction events were scored and factors influencing the frequency of nondisjunction involving chromosomes 7 and 18 were examined. We concluded the following: The frequency of nondisjunction among 1784 embryos (3568 meioses) was 15.9%.Nondisjunction events were distributed nonrandomly among progeny. This was inferred from the distribution of the frequency of trisomics and uniparental disomics (UPDs) among all litters.There was no evidence to show an effect of maternal or paternal age on the frequency of nondisjunction.Strain background did not play an appreciable role in nondisjunction frequency.The frequency of nondisjunction for chromosome 18 was significantly higher than that for chromosome 7 in males.The frequency of nondisjunction for chromosome 7 was significantly higher in females than in males. These results show that molecular genotyping provides a valuable tool for understanding factors influencing meiotic nondisjunction in mammals.

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