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
Novel Insights from Clinical Practice
Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion
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.
Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
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.
A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family
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.