Letter: Inherited t2q-/15q+ translocation and Down's syndrome

Further delineation of the 22q13 deletion syndrome.

Clinical dysmorphology·2005

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

Annales de genetique·2004

The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma.

Cytogenetic and genome research·2004

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.

American journal of medical genetics. Part A·2004

Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer.

Clinical genetics·2004

Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report.

Hormone research·2003

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Frontiers in cell and developmental biology·2026

Somatic Cells in the Anuran Testis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

Genome biology and evolution·2026

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology·2026

[Genetic Dystonias].

Medicina·2026

Related Experiment Videos

Letter: Inherited t2q-/15q+ translocation and Down's syndrome

Related Concept Videos

Further delineation of the 22q13 deletion syndrome.

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma.

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder.

Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer.

Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Somatic Cells in the Anuran Testis.

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

[Genetic Dystonias].

Related Experiment Videos

Letter: Inherited t2q-/15q+ translocation and Down's syndrome

Related Concept Videos

Related Articles