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Journal Name Change

Vol. 1-11 (1962-1972) were published under the journal's former title Cytogenetics and Vol. 12-95 (1973-2001) under Cytogenetics and Cell Genetics.

Cytogenetic and Genome Research 2023, Vol. 163, No. 1-2

Letter to the Editor

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 1–4. https://doi.org/10.1159/000533170

Review Article

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 5–13. https://doi.org/10.1159/000531933

Original Article

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 14–23. https://doi.org/10.1159/000533218

Novel Insights from Clinical Practice

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 24–31. https://doi.org/10.1159/000532051
Established Facts

  • Intrachromosomal insertions are generally associated with high reproductive risk for unbalanced offspring.

  • Balanced insertion carriers generally have a normal phenotype, except when the breakpoint interrupts a gene with a dominant effect.

  • Several genes on X chromosome have already been correlated with X-linked intellectual disability and/or neurodevelopmental disorders.

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 32–35. https://doi.org/10.1159/000531703
Established Facts

  • Duplications affecting the imprinting centre region 1 and/or imprinting centre region 2 in 11p15 have been reported for both Silver-Russell and Beckwith-Wiedemann syndromes as well as in clinically normal carriers.

  • Cytogenetic analysis, mainly karyotype and copy number variant microarrays, remain major components of the routine genetic diagnostic tools for prenatal cases with sonographic markers.

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 36–41. https://doi.org/10.1159/000531932
Established Facts

  • FGF13 is a rare pathogenic gene for neurology. Up to now, limited studies of developmental and epileptic encephalopathy 90 (DEE90) caused by FGF13 have been reported.

  • As a rare disease, no effective treatment strategy for DEE90 was reported.

Original Article

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 42–51. https://doi.org/10.1159/000533716
Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 52–58. https://doi.org/10.1159/000533431
Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 59–73. https://doi.org/10.1159/000531734

Brief Report

Subject Area: Genetics
Cytogenet Genome Res (2023) 163 (1-2): 74–80. https://doi.org/10.1159/000533317
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