Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report

Use of fluorescence in-situ hybridization (fish) for the estimation of the aberrant cell clone in leukemias with trisomy-8 or monosomy-7 detected by karyotyping.

International journal of oncology·2011

Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.

Cytogenetic and genome research·2007

[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Der Nervenarzt·2005

Molecular karyotyping using an SNP array for genomewide genotyping.

Journal of medical genetics·2004

Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.

American journal of medical genetics. Part A·2004

Glutaric aciduria type III: a distinctive non-disease?

Journal of inherited metabolic disease·2003

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.

Diagnostics (Basel, Switzerland)·2026

Overcoming the nuclear barrier in nonviral gene therapy: mechanisms, carrier design, and translational perspectives on NLS peptide and DNA targeting sequence strategies.

Drug delivery·2026

Structural defects in male meiotic cell division lead to reproductive genome instability and disturbed microsporogenesis in banana (Musa spp.).

Frontiers in plant science·2026

Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12a.

Human mutation·2026

Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Large intra-chromosome heterogeneity leads to emergent nonlinear mechanics.

Nature physics·2026

Related Experiment Videos

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report

Related Concept Videos

Use of fluorescence in-situ hybridization (fish) for the estimation of the aberrant cell clone in leukemias with trisomy-8 or monosomy-7 detected by karyotyping.

Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.

[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Molecular karyotyping using an SNP array for genomewide genotyping.

Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.

Glutaric aciduria type III: a distinctive non-disease?

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.

Overcoming the nuclear barrier in nonviral gene therapy: mechanisms, carrier design, and translational perspectives on NLS peptide and DNA targeting sequence strategies.

Structural defects in male meiotic cell division lead to reproductive genome instability and disturbed microsporogenesis in banana (Musa spp.).

Rapid and Sensitive Detection of USP26 Cluster Variants Based on CRISPR/Cas12a.

Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations.

Large intra-chromosome heterogeneity leads to emergent nonlinear mechanics.

Related Experiment Videos

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report

Abstract:

Related Concept Videos

Related Articles