scholarly journals Multicolor Spectral Analyses of Mitotic and Meiotic Mouse Chromosomes Involved in Multiple Robertsonian Translocations. I. The CD/Cremona Hybrid Strain

2015 ◽  
Vol 147 (4) ◽  
pp. 253-259
Author(s):  
Michael Schmid ◽  
Claus Steinlein ◽  
Heinz Winking
Keyword(s):  
Spectral Analysis ◽  
Robertsonian Translocation ◽  
Male Meiosis ◽  
Translocation Chromosome ◽  
Spectral Karyotyping ◽  
Hybrid Strain ◽  
Robertsonian Translocations ◽  
Unique System ◽  
Specific Order ◽  
Hybrid Mice

Multicolor spectral analysis (spectral karyotyping) was applied to mitotic and male diakinetic chromosomes of hybrid mice carrying a unique system of 18 autosomal Robertsonian translocation chromosomes with alternating arm homologies. Only the autosomes 19 and the XY sex chromosomes are excluded from these Robertsonian translocations. The translocations, previously identified by conventional banding analyses, could be verified by spectral karyotyping. Besides the Robertsonian translocations, no other interchromosomal rearrangements were detected. In diakineses of male meiosis, the 18 metacentric Robertsonian translocation chromosomes form a very large meiotic ‘superring'. The predictable, specific order of the chromosomes along this ‘superring' was completely confirmed by multicolor spectral analysis. In the majority of diakineses analyzed, the free autosomal bivalent 19 and the XY sex bivalent form a conspicuous complex which tightly associates with the 12;14 Robertsonian translocation chromosome in the ‘superring'.

Multicolor Spectral Analyses of Mitotic and Meiotic Mouse Chromosomes Involved in Multiple Robertsonian Translocations. II. The NMRI/CD and CD/TA Hybrid Strains

2017 ◽  
Vol 151 (1) ◽  
pp. 18-26 ◽  
Author(s):  
Michael Schmid ◽  
Claus Steinlein ◽  
Heinz Winking
Keyword(s):  
Sex Chromosomes ◽  
Male Meiosis ◽  
Spectral Karyotyping ◽  
Robertsonian Fusion ◽  
Mitotic Chromosomes ◽  
Sequential Order ◽  
Spectral Analyses ◽  
Robertsonian Translocations ◽  
Spatial Associations ◽  
Meiotic Chromosomes

Multicolor spectral analyses (spectral karyotyping) were performed on mitotic chromosomes of NMRI, CD, and TA mice and on male meiotic chromosomes (diakineses) of NMRI/CD and CD/TA hybrids. All chromosomes, including the various centric (robertsonian) fusions, could be unequivocally identified. Apart from the robertsonian translocations, which were previously detected by conventional banding analyses, no other interchromosomal rearrangements were found in these mice. In both the CD and TA mice, the autosomes 19 and the XY sex chromosomes are not involved in robertsonian translocations. In diakineses of male meiosis of the NMRI/CD hybrid, the 9 expected trivalents were present, whereas in those of the CD/TA hybrids a stable large meiotic multivalent, formed by 15 robertsonian fusion chromosomes and 2 terminally located normal chromosomes, was observed. The specific sequential order of the robertsonian fusion chromosomes found within this meiotic chain was as theoretically predicted. In the majority of diakineses of the NMRI/CD and CD/TA hybrids, the free autosomal bivalent 19 and the XY sex bivalent formed noticeable tight spatial associations.

scholarly journals How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

2020 ◽  
Vol 77 (23) ◽  
pp. 4765-4785
Author(s):  
Ewa Wiland ◽  
Marta Olszewska ◽  
Tomasz Woźniak ◽  
Maciej Kurpisz
Keyword(s):  
Robertsonian Translocation ◽  
Molecular Classification ◽  
Common Type ◽  
Destructive Effect ◽  
Robertsonian Translocations ◽  
Class 1 ◽  
The Common ◽  
Sperm Chromosomes

Abstract In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out.

Translocation chromosome karyotypes of the Robertsonian translocation carriers' embryos

2010 ◽  
Vol 93 (4) ◽  
pp. 1061-1065 ◽  
Author(s):  
Huang Jin ◽  
Liu Ping ◽  
Qiao Jie ◽  
Lian Ying ◽  
Chen Yongjian
Keyword(s):  
Robertsonian Translocation ◽  
Translocation Chromosome

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.

scholarly journals A genetic method for measuring non-disjunction in mice with Robertsonian translocations

1975 ◽  
Vol 26 (3) ◽  
pp. 283-295 ◽  
Author(s):  
Mary F. Lyon ◽  
Hazel C. Ward ◽  
Gillian M. Simpson
Keyword(s):  
Environmental Factors ◽  
High Frequency ◽  
Maternal Age ◽  
Robertsonian Translocation ◽  
Marker Gene ◽  
Robertsonian Translocations ◽  
Factors Affecting ◽  
Genetic Method ◽  
Total Progeny ◽  
Good Agreement

SUMMARYA high frequency of chromosomal non-disjunction occurs spontaneously in mice heterozygous for some Robertsonian translocations. If animals heterozygous for the translocation and homozygous for different alleles of a marker gene are mated together a few young homozygous for the marker arise through non-disjunction, and their frequency can be used as a measure. This method has been used with the Robertsonian translocation Rb(9.19)163H and the marker ruby ru (chr. 19); Rb(4.6)-2Bnr with brown (b) and misty (m) (chr. 4); and Rb(9.14)6Bnr with hairless (hr) and piebald (s) (chr. 14) respectively. The frequencies of marked young were: Rb163 0/5260 ruru; Rb2 21/1997 mm bb; and Rb6 19/1702 hrhr ss, and the corresponding calculated non-disjunction frequencies in each arm of the translocation were Rb163, <5 %; Rb2, 15%; Rb6, 15%. These figures show reasonably good agreement with values obtained by other methods. A search for genetic or environmental factors affecting the frequency of marked young in Rb2 and Rb6 revealed that in Rb2 the frequency increased with maternal age, whereas in Rb6 the maternal age of the marked young was non-significantly below that of the total progeny. The reasons for this discrepancy are not clear.

Robertsonian Translocations

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
General Population ◽  
Male Infertility ◽  
Robertsonian Translocation ◽  
Normal Person ◽  
Structural Rearrangements ◽  
Robertsonian Translocations ◽  
Acrocentric Chromosomes

Robertsonian translocations are among the most common balanced structural rearrangements seen in the general population, with a frequency in newborn surveys of about 1 in 1,000. Robertsonian translocations have their own peculiar characteristics and need to be considered separately. These translocations arise from fusions between different acrocentric chromosomes (heterologous Robertsonian translocation) or, rather rarely, between the same chromosome (homologous Robertsonian translocation). The imbalances which may be seen in gametes/offspring of carriers are either pure aneuploidies, or full uniparental disomies. There is also an association with male infertility. This chapter considers the case of the phenotypically normal person who carries, in balanced form, a Robertsonian translocation.

scholarly journals Centric fusion in goats (Capra hircus): Identification of a 6/15 translocation by high resolution chromosome banding

1998 ◽  
Vol 21 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Lígia Souza Lima Silveira da Mota ◽  
Rosana Ap. Bicudo da Silva
Keyword(s):  
High Resolution ◽  
Reproductive Performance ◽  
Robertsonian Translocation ◽  
Chromosome Banding ◽  
Centric Fusion ◽  
Capra Hircus ◽  
Structural Rearrangements ◽  
Robertsonian Translocations ◽  
Brazilian Sample ◽  
Chromosome Pattern

Nine phenotypically normal Saanen goats (6 males and 3 females) belonging to the goat house of the Instituto de Biociências, UNESP, Botucatu Campus, were analyzed cytogenetically. The objective of the present study was to determine whether or not chromosomes 5 and 15 are involved in a Robertsonian translocation previously observed in a sample of a Brazilian herd using the chromosome pattern described by the ISCNDA (1989). The results suggest the involvement of chromosomes 6 and 15 in the fusion demonstrated by G-banding in prometaphase cells. The Brazilian sample of animals carrying structural rearrangements did not present any reduction in fertility, suggesting the existence of prezygotic selection against unbalanced gametes. Further investigations on the Brazilian herd are necessary to assess the real incidence of Robertsonian translocations and their effects on reproductive performance.

scholarly journals Regularity analysis for an abstract thermoelastic system with inertial term

2020 ◽  
Author(s):  
Zhaobin Kuang ◽  
Zhuangyi Liu ◽  
Hugo Fernandez Sare
Keyword(s):  
Spectral Analysis ◽  
Asymptotic Stability ◽  
Parabolic Equations ◽  
Gevrey Class ◽  
Inertial Term ◽  
Polynomial Stability ◽  
Parameter Region ◽  
Abstract System ◽  
Complete Regularity ◽  
Specific Order

In this paper, we provide a complete regularity analysis for an abstract system of coupled hyperbolic and parabolic equations. The asymptotic stability of this model was investigated in [6]. We are able to decompose the parameter region into three parts where the semigroup associated with the system is analytic, of Gevrey class of specific order, and non-smoothing, respectively. Moreover, by a detailed and creative spectral analysis,, we will show that the order of Gevrey class is sharp, under proper conditions. We also show that the orders of the polynomial stability obtained in [6] is optimal.

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