Plus fold-out: 'The Normal Human Karyotype G- and R-bands' This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with ‘Cytogenetic and Genome Research’ since The ISCN is an. The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN , has recently been published following a thorough revision of the issue and the incorporation of suggestions from the community by the current standing committee. ISCN (): An. latest version of ISCN, ISCN , was published in No- vember togenetic Nomenclature, ISCN , has recently been pub-.

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ISCN - Download as PDF File .pdf), Text File .txt) or read online. cytognetics. and Reproductive Health Research. Geneva International System for human Cytogenetic Nomenclature (ISCN) In designating a particular band, . Published in collaboration with Cytogenetic and Genome Research under the title ISCN An International System for Human Cytogenetic Nomenclature.

Abstract Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes.

In carriers of such translocations, different modes of segregations would result in the formation of either balanced alternate segregation mode or unbalanced adjacent 1, adjacent 2, and segregation modes gametes. In addition, there is an increased risk for imprinting disorders in their offspring.

Most of reported cases are phenotypically normal but experience adverse pregnancy outcomes.

Case Presentation: In this paper, a report was made on a normal female with a history of 4 consecutive first trimester fetal losses and a normal son referred to Center for Comprehensive Genetics Services,Tehran, Iran, in summer Cytogenetic analyses of proband and her infant showed 44,XX, der 13;14 q10;q10 x2 and 45, XY, der 13;14 q10;q10 , respectively. Parents of proband have been shown to have 45,XY,der 13q;14q and 45,XX,der 13q;14q karyotypes, respectively.

Conclusion: The present report was in agreement with the few reports of homozygosity for Robertsonian translocation which demonstrated normal phenotypes for such persons and possibility of giving birth to phenotypically normal heterozygote carriers of Robertsonian translocations. J Reprod Infertil. Full Text Introduction Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes.

Notably, there is an increased risk of infertility, spontaneous abortions, or chromosomally unbalanced offspring for carriers of Robertsonian translocation 1. Balanced translocations impede the normal chromosome pairing and segregation at meiosis phase I, leading to the formation of unbalanced gametes, consequently causing unbalanced abnormal children 2.

The Future is Now

In carriers of such translocations, different modes of segregations are expected at the end of meiosis I for the translocated and nontranslocated chromosomes which would result in the formation of either balanced alternate segregation mode or unbalanced adjacent 1, adjacent 2, and segregation modes gametes. Consequently, there are increased risks for miscarriage Furthermore, carriers of Robertsonian translocations are at increased risk of imprinting disorders in their offspring 4.

Until now, there are few reports showing homozygosity for Robertsonian translocations which are summarized in table 1.

Based on scarcity of such situation, no relevant statistical analyses have been performed.

In homozygote carriers of Robertsonian translocations, all gametes are expected to carry a Robertsonian translocation leading to formation of offspring which are heterozygous for the translocation. Jumping Translocations Fragile Sites Homogeneously Staining Regions Dicentric Chromosomes Uniparental Disomy Alternative Interpretation Robertsonian Translocations Variation in Length Whole-Arm Translocations Tricentric Chromosomes Satellite Stalks Additional Material of Unknown Origin Incomplete Karyotype Variation in Number and Position.

Multiple Copies of Rearranged Chromosomes Derivative Chromosomes..

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

Telomeric Associations Uncertainty in Chromosome or Band Designation Reciprocal Translocations Variation in Heterochromatic Segments Autosomal Abnormalities Marker Chromosomes Modal Number Use of dim and enh Dual Fusion Probes Relative Position of Signals Chromosome Aberrations Unrelated Clones Number of Signals Examples of Meiotic Nomenclature Constitutional Karyotype Composite Karyotype Single Fusion Probes Chromosome Comparative Genomic Hybridization cgh Partial Chromosome Paints Single Fusion with Extra Signal Probes Reverse in situ Hybridization rev ish Break-Apart Probes Table of Contents 85 85 85 86 86 86 87 87 88 88 88 89 89 90 92 94 94 95 97 97 98 V Subtelomeric Metaphase in situ Hybridization Banded Preparations Non-Banded Preparations Clones and Clonal Evolution Multi-Color Chromosome Painting Sideline and Clonal Evolution FISH analysis on nuclei and metaphases using the subtelomeric 9qter probe was performed to further investigate the involvement of chromosome 9 in the complex rearrangement: it showed a normal signal pattern.

The BCR probe gave a splitted signal on der 22 and on der 12 , respectively. All these results were consistent with the CML diagnosis and the patient started the treatment with Imatinib mesylate Glivec.

After three months of therapy, the WBC count was 5. Figure 1: a QFQ karyotype derived from bone marrow cells.

Environmental Reporting

The arrows indicate the derivative chromosomes involved in the rearrangement. The arrows indicate the rearranged chromosomes and the normal chromosomes 9 and In agreement with ESMO clinical practice guidelines, this case report proves the role of these molecular approaches in detecting cryptic fusion gene in some types of variant translocations with masked Ph and der 9 chromosomes.

As previously reported, the breakpoints location of complex variant t 9;22 is nonrandom with a marked clustering to specific chromosome bands suggesting that some regions are more prone to breakage. This finding could be explained by the presence of a specific genomic structure mediating the recombination.

The 12q13 chromosome region, involved in our case, was described by Costa et al.

In addition, this region is involved both in other chromosomal translocations, originating chimeric genes related to different subtypes of leukemia as reported in Mitelman et al. Combining all these data we can speculate that the presence of specific genomic motif in 12q13, such as CGG repeats, could have caused the variant t 9;22 observed in our patient.

To the best of our knowledge, this is the first case with this type of variant translocation in a CML patient. We can also hypothesize that this chromosomal rearrangement was arisen by one-step mechanism with at least four simultaneous breaks and joints because i at diagnosis we did not detect additional clonal abnormalities and ii on der 22 only one breakpoint occurred, which is located within the BCR gene and that originated both the fusion gene and the t 12; Conversely other cases showed the coexistence of standard and complex translocation in the same patient suggesting that two or more consecutive translocations caused the formation of the complex variant translocation [ 4 ].

Prognostic data on response to Imatinib in cases with complex Philadelphia translocation are contradictory and the poor prognostic outcome in some patient of this group was explained by an increased frequency of the concomitant deletion on der 9 rather than to the type of chromosome rearrangement [ 5 ].

Our patient has been treated with Imatinib, and at 3 months of therapy she achieved the hematological and cytogenetics responses despite the presence of the deletion on der 9 , while at six months of therapy she developed a clone with trisomies 8 and 9.

“Classical cytogenetics” is not equal to “banding cytogenetics”

These trisomies have apparently no prognostic significance in CML. Up to now our patient showed a good response to Imatinib treatment, but further studies are needed to confirm this finding.

Conflict of Interests The authors declare that there is no conflict of interests regarding the publication of this paper. References J. Vardiman, J.

Thiele, D. Arber et al. Kantarjian, and J.

Johansson, T. Fioretos, and F.In some reported cases, only one parent is heterozygous, with the second rearrangement arising de novo Box Unionville.

In cases with variant Ph translocation a deletion on der 9 may be more frequently observed than in cases with the classical one. Composite Karyotype Chromosome Comparative Genomic Hybridization cgh Karger Publishers. Join Our Mailing Lists.

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