Search
Search Results
-
Characteristics and clinical evaluation of X chromosome translocations
BackgroundIndividuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific...
-
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BackgroundThe deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 ...
-
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome
Chromosome stability is a key point in genome evolution, particularly that of the Y chromosome. The Y chromosome loss in blood and tumor cells is...
-
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
BackgroundPartial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized...
-
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings
BackgroundNoninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for...
-
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia,...
-
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been...
-
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin
BackgroundRare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.
...
-
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biological impacts of such...
-
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
BackgroundXq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and...
-
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
BackgroundUniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are...
-
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature
BackgroundPremature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most...
-
Characterizing genetic variation on the Z chromosome in Schistosoma japonicum reveals host-parasite co-evolution
BackgroundSchistosomiasis is a neglected tropical disease that afflicts millions of people worldwide; it is caused by Schistosoma, the only dioecious...
-
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
ObjectiveTo analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random...
-
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report
BackgroundNoninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high...
-
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report
BackgroundA patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to...
-
Chromosome 1q21 abnormalities in multiple myeloma
Gain of chromosome 1q (+1q) is one of the most common recurrent cytogenetic abnormalities in multiple myeloma (MM), occurring in approximately 40% of...
-
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
BackgroundRing chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material....
-
Methylation status of genes esca** from X-chromosome inactivation in patients with X-chromosome rearrangements
BackgroundX-chromosome inactivation (XCI) is a mechanism in which one of two X chromosomes in females is randomly inactivated in order to compensate...
-
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Epilepsy and white matter abnormality have been reported in DYRK1A -related intellectual disability syndrome; however, the clinical course has yet to...
