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1

Subfertile couple with t(4;22)(q23;q11.2)

100%
Srebniak M., Popowska L., Wawrzkiewicz-Witkowska A., Tomaszewska A., Kazmierczak W.
Journal of Applied Genetics
|
2005
|
vol. 46
|
issue 3
333-336
EN
A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a progeny with abnormal karyotype is rather low, as the progeny would probably have lethal imbalances.
2

Interpopulation sex-chromosomes polymorphism in the grasshopper Podisma sapporensis Shir. from Sakhalin and the Kurile Islands

100%
Bugrov A. G.
Folia Biologica
|
1995
|
vol. 43
|
issue 1-2
51-53
EN
A comparative karyotype analysis of two populations of Podisma sapporensis showed that :2n male=22 + XO and 2n female = 22 + XX, the X chromosomes are subacrocentric as a result of the inversion within a population derived from Sakhalin; 2n male=20 + neo-X+neo-Y and 2nfemale=20 + neo-XX, as a ersult of X autosome translocation in population from the Kurile Islands (Kunashir).
3

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

88%
Myszka A., Karpinski P., Makowska I., Lassota M., Przelozna B., Slezak R., Sasiadek M. M.
Journal of Applied Genetics
|
2010
|
vol. 51
|
issue 3
331-335
EN
We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.
4

Transfer of chromosomes of the A and B genomes of wheat to tetraploid rye

88%
Apolinarska B.
Journal of Applied Genetics
|
1996
|
vol. 37
|
issue 4
345-356
EN
Tetraploid rye was crossed with different tetraploid triticale lines. The F1 generation of tetraploid rye x tetraploid triticale hybrids was backcrossed with 4x rye. After backcrossing, all BC1 F1 plants were subjected to open pollination, whereas in the BC1 F2 generations only plants with wheat chromosomes in their karyotypes were open pollinated. Substitution, addition and addition substitution lines of wheat chromosomes in tetraploid rye were isolated from the F2 and F3 of BC1 . In 60 plants of BC1 F2 , 59 chromosomes from the A genome and 9 from the B genome of wheat were recovered. The wheat chromosomes were monosomic except for five plants which were disomic, viz. 1A and 5A in two plants each, and a translocated 3AS/5AL in one plant. In 235 BC1 F3 plants, 174 wheat addition and substitution chromosomes were found, 143 from the A genome and 31 from the B genome. All wheat chromosomes except 3A from the A genome and four chromosomes from the B genome - 2B, 3B, 5B and 7B were recovered. The number of substitutions ranged from one to four per plant, only two plants having four. In the group of addition plants the number of added wheat chromosomes ranged from one to two, and in the case of addition substitution plants - from two to four.Wheat chromosomes occurred in monosomic form, except 10 plants. Six substitution plants were disomic for 1A, 2A, 5A, 7A, 2B and 3B, respectively. One was disomic for 1A and 5A in two addition plants. Two addition substitution plants were double disomic: 1A and 5A - in one, and 1A and 3B in the other. In the BC1 F3 generation, 23 different translocations were found, four of which occurred between wheat chromosomes and the remaining 19 - between wheat and rye chromosomes. Translocated chromosomes were monosomic, except four plants. Two of them were disomic for 3AS/4RL, one for 4AS/4RS and one for 7AS/7RS. The fertility of both addition and substitution plants ranged from 0 to 38.0 seeds/spike, regardless of the chromosome number, with a mean of 9.61 seeds/spike. Plants with 28 chromosomes showed singnificantly higher fertility than plants with 29 and more chromosomes, except additoion plants with chromosomes 5A and 5B. The analysis of the influence of particular wheat chromosomes on plant fertility showed that both substitution and addition plants with chromosome 6A had the highest average fertility, while plants with chromosome 2B in substitution lines as well as plants with chromosome 2A in addition and addition substitution lines had the lowest fertility .
5

Chromosome abnormalities in domestic sheep (Ovis aries )

88%
Long S. E.
Journal of Applied Genetics
|
1997
|
vol. 38
|
issue 1
65-76
EN
The clinical effects of twenty different chromosome anomalies in sheep are reviewed. It is concluded that not all anomalies give rise to reproductive problems or phenotypic variations. In particular, the centric fusion translocations appear not to have affected fertility and they have been helpful in determining the karyotype of the sheep.
6

Karyotypes of the short-horned orthopteran insects (Orthoptera, Caelifera) from Russia, Kazakhstan, Central Asia, and the Caucasus

75%
Burgov A. G.
|
|
vol. 44
15-25
EN
The results of comparative karyotypical studies of the Caelifera orthopteran insects from Russia, Kazakhstan, Central, Asia and the Caucasus are summarized. Chromosome complements for 166 species belonging to the families: Eumastacidae (subfamily Gomphomastacinae; 2n male=19,21), Tetrigidae (2n male=13), Acrididae (2n male=23, 22, 21, 19, 17, 16), Pyrgomorphidae (2n male=19), and Pamphagidae (2n male=19,18) are presented.
7

Protooncogenes - the role in cancer development and chemical activation

75%
Przybojewska B.
Postępy Higieny i Medycyny Doświadczalnej
|
1994
|
vol. 48
|
issue 2
161-180
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