Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.
María Teresa Alejandra González-RodríguezSinhue Alejandro Brukman-JiménezIdalid Cuero-QuezadaJorge Román Corona RiveraAlfredo Corona-RiveraGraciela Serafín-SaucedoLiuba M Aguirre-SalasLucina Bobadilla-MoralesPublished in: Genes (2023)
Turner Syndrome is characterized by a normal X chromosome and the partial or complete absence of a second sexual chromosome. Small supernumerary marker chromosomes are present in 6.6% of these patients. Because of the wide range of Turner syndrome karyotypes, it is difficult to establish a relationship with the phenotype of the patients. We present the case of a female patient with Turner syndrome, insulin resistance, type 2 diabetes, and intellectual disability. The karyotype revealed the presence of mosaicism with a monosomy X cell line and a second line with a small marker chromosome. FISH of two different tissues was used to identify the marker chromosome with probes for X and Y centromeres. Both tissues presented mosaicism for a two X chromosome signal, differing in the percentage of the monosomy X cell percentage. Comparative genomic hybridization with the CytoScan TM HD assay was performed in genomic DNA from peripheral blood, allowing us to determine the size and breakage points of the small marker chromosome. The patient presents a phenotype that combines classic Turner syndrome features and unlikely ones as intellectual disability. The size, implicated genes, and degree of inactivation of the X chromosome influence the broad spectrum of phenotypes resulting from these chromosomes.
Keyphrases
- intellectual disability
- copy number
- case report
- type diabetes
- end stage renal disease
- autism spectrum disorder
- insulin resistance
- ejection fraction
- chronic kidney disease
- newly diagnosed
- gene expression
- metabolic syndrome
- single cell
- genome wide
- prognostic factors
- peritoneal dialysis
- mental health
- growth hormone
- stem cells
- high fat diet
- high throughput
- gold nanoparticles
- bone marrow
- patient reported outcomes
- cell therapy
- cell free
- fluorescence imaging
- quantum dots
- nucleic acid