FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W306524630> ?p ?o ?g. }

• W306524630 endingPage "6" @default.
• W306524630 startingPage "203" @default.
• W306524630 abstract "Some changes in chromosome morphology, detected during cytoge- netic analysis, are not associated with clinical defects. There are chro- mosomal regions that show a large degree of variability. According to Wyandt and Tonk (8), heteromorphisms represent microscopically visible regions on chromosomes that are variable in size, morphology and staining properties in different individuals. Here we describe chromosome variants and examples of chromosome anomalies that are considered not to be associated with phenotypic consequences. The first index case was a 26-year-old man, referred for genetic counseling because of a history of infertility with a non-consanguineous partner. He is the first child of healthy non-consanguineous parents. Detailed history revealed that his uncle has subfertility. Except azoospermia his phenotype is normal. The second index case was a 34-year-old man, referred for genetic counseling because of a history of infertility with a non-consanguineous partner. He is the first child of healthy non-con- sanguineous parents. Except oligoospermia clinical findings are nor- mal. We studied 20 metaphases from peripheral blood lymphocytes from both index cases and showed 46,XY,6?h+ (Fig. la,b). It means that there is extra heterochromatin material on the ? or q arm of the chromosome 6. We also performed C-banding and found heterochro- matin excess in centromeric region of the chromosome 6 in index case. The karyotype of the second index case's parents was performed on peripheral blood lymphocytes and the high resolution G-banding sho- wed the same arrangement in his father as in the index case. Morpholo- gical variations of constitutive heterochromatin are frequently detected during routine cytogenetic analysis. Most often, chromosomes vary in size and position of heterochromatin in the following regions: lqh, 9qh, and 16qh. Some variants are sometimes referred as inversions of heterochromatin. Variations of the C-band material can be seen in other chromosomes, as well. Zaslav et al. (9) demonstrated a rare he- terochromatic variant of chromosome 4 (with an extra dark band at the terminal part of the long arm). This inherited variant was reported not to be associated with any risk of phenotypic abnormalities. Hete- romorphism 18ph+ was also described previously (6). Recent study suggest that classical euchromatic variants of 9ql2/qh+ may be res- ponsible for the recurrent abortion (3). Variation in length of the short arm of acrocentric chromosomes is commonly seen. It is due to dif- ferent amounts of tandemly repeated DNA sequences: satellites I, II, III and IV, rRNA genes, and a-satellite, which are located in pll, pl2 and pi 3 bands, respectively (7). Heterochromatin plays key roles in chromosome structure and gene regulation and is marked by a set of specialized nonhistone proteins and specific histone modifications (2, 4). Meiotic recombination is a key mechanism for generating genetic diversity. In meiosis, crossovers result in genetic exchanges that provide daughter cells with new combinations of parental alleles. Because of the fundamental role of meiotic recombination, there is intense interest in identifying and characterizing the sites and the frequencies of crossovers during meiosis. The other affected mechanism, may be heterochromatin polymorphism a reflection of abnormal heterochromatin formation due to defective histone protein methylation. Chromosomal abnormalities transmitted through gametes are associated with pregnancy loss, infant mortality, birth defects, infertility, and genetic diseases, including cancer. …" @default.
• W306524630 created "2016-06-24" @default.
• W306524630 creator A5030952065 @default.
• W306524630 creator A5059668351 @default.
• W306524630 creator A5070875965 @default.
• W306524630 creator A5083476906 @default.
• W306524630 date "2009-01-01" @default.
• W306524630 modified "2023-09-27" @default.
• W306524630 title "Can heterochromatin polymorphism of chromosome 6 affect fertility?" @default.
• W306524630 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19650419" @default.
• W306524630 hasPublicationYear "2009" @default.
• W306524630 type Work @default.
• W306524630 sameAs 306524630 @default.
• W306524630 citedByCount "4" @default.
• W306524630 countsByYear W3065246302012 @default.
• W306524630 countsByYear W3065246302015 @default.
• W306524630 crossrefType "journal-article" @default.
• W306524630 hasAuthorship W306524630A5030952065 @default.
• W306524630 hasAuthorship W306524630A5059668351 @default.
• W306524630 hasAuthorship W306524630A5070875965 @default.
• W306524630 hasAuthorship W306524630A5083476906 @default.
• W306524630 hasConcept C104317684 @default.
• W306524630 hasConcept C2777420699 @default.
• W306524630 hasConcept C2777688143 @default.
• W306524630 hasConcept C2779234561 @default.
• W306524630 hasConcept C30481170 @default.
• W306524630 hasConcept C53226629 @default.
• W306524630 hasConcept C54355233 @default.
• W306524630 hasConcept C80227256 @default.
• W306524630 hasConcept C86803240 @default.
• W306524630 hasConceptScore W306524630C104317684 @default.
• W306524630 hasConceptScore W306524630C2777420699 @default.
• W306524630 hasConceptScore W306524630C2777688143 @default.
• W306524630 hasConceptScore W306524630C2779234561 @default.
• W306524630 hasConceptScore W306524630C30481170 @default.
• W306524630 hasConceptScore W306524630C53226629 @default.
• W306524630 hasConceptScore W306524630C54355233 @default.
• W306524630 hasConceptScore W306524630C80227256 @default.
• W306524630 hasConceptScore W306524630C86803240 @default.
• W306524630 hasIssue "2" @default.
• W306524630 hasLocation W3065246301 @default.
• W306524630 hasOpenAccess W306524630 @default.
• W306524630 hasPrimaryLocation W3065246301 @default.
• W306524630 hasRelatedWork W181498711 @default.
• W306524630 hasRelatedWork W1972441246 @default.
• W306524630 hasRelatedWork W1974514933 @default.
• W306524630 hasRelatedWork W1975136825 @default.
• W306524630 hasRelatedWork W2000746772 @default.
• W306524630 hasRelatedWork W2012955490 @default.
• W306524630 hasRelatedWork W2021921493 @default.
• W306524630 hasRelatedWork W2096359534 @default.
• W306524630 hasRelatedWork W2104556093 @default.
• W306524630 hasRelatedWork W2129856561 @default.
• W306524630 hasRelatedWork W2160904334 @default.
• W306524630 hasRelatedWork W2324661466 @default.
• W306524630 hasRelatedWork W2410165608 @default.
• W306524630 hasRelatedWork W269640120 @default.
• W306524630 hasRelatedWork W2755649884 @default.
• W306524630 hasRelatedWork W2886752161 @default.
• W306524630 hasRelatedWork W2887860888 @default.
• W306524630 hasRelatedWork W3142194485 @default.
• W306524630 hasRelatedWork W3183794406 @default.
• W306524630 hasRelatedWork W437732313 @default.
• W306524630 hasVolume "20" @default.
• W306524630 isParatext "false" @default.
• W306524630 isRetracted "false" @default.
• W306524630 magId "306524630" @default.
• W306524630 workType "article" @default.