Publications by authors named "E A Fonova"
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion.
View Article and Find Full Text PDFPallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS.
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- Pregnancy loss is frequently linked to chromosomal abnormalities, with a study revealing that about 50.4% of spontaneous losses had karyotypically abnormal products of conception, influenced by parental age.
- The researchers examined 94 cases of loss with normal karyotypes and discovered that 35.1% exhibited previously undetected chromosomal issues, raising the overall rate of abnormalities to 67.8%.
- Findings indicate that unlike viable pregnancies, where abnormalities are often limited to chorionic villi, pregnancy losses show more mosaicism in extra-embryonic tissues, highlighting the need for deeper analysis of genomic abnormalities to enhance understanding and treatment.
Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene.
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