Publications by authors named "Anna Kulpanovich"
Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine (N-acetyl)-6-sulfatase (GALNS). Phenotypically it seems to be a well-defined condition, with two main clinical forms: mild (attenuated) and severe, which are determined based on a combination of symptoms, i.e.
View Article and Find Full Text PDFBackground: The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods: Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results: A large number of patients presented with an attenuated phenotype (33%).
Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal, autosomal recessive storage disorder caused by deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Approximately, 140 ARSB gene mutations have been identified; however, most are private mutations making genotype-phenotype correlation for most MPS VI patients difficult. The aim of this study was to describe the natural clinical course in patients homozygous for the p.
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- The study investigates heterochromatic variants of chromosome 9 through the largest molecular cytogenetic research involving over 300 carriers, revealing 17 distinct variants, five of which were previously unreported.
- A new 3-color FISH probe-set allowed researchers to classify 21 out of the 24 known heteromorphic patterns, with pericentric inversions being the most common.
- The findings indicate that certain variants occur more frequently in Western Europe compared to Eastern Europe, and there is no strong connection established between these variants and infertility.
Article Synopsis
- Ring chromosomes and small supernumerary marker chromosomes (sSMC) are complex genetic structures where telomeres are important for their formation and stability.
- A study analyzed 14 ring chromosomes and 29 sSMC using fluorescence in situ hybridization (FISH) to investigate the presence of telomeric sequences, finding that ring chromosomes can be categorized based on whether they have telomeres.
- The results indicated that while some sSMC exhibited telomeric signals, many others did not, challenging previous assumptions that the absence of telomeres suggests a ring shape, highlighting the need for confirmation through multiple research methods.
A new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH probe sets, as those do not normally cover the acrocentric short arms; the large pericentric regions of chromosomes 1, 9, and 16; as well as the band Yq12.
View Article and Find Full Text PDFAn unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.
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