Abstract：
BACKGROUND:The goal of the presented studies as a retrospective reliability assessment of classical banding cytogenetic studies and of prognosing epicrises in a group of 14 cases, affected with additional marker chromosomes. MATERIAL AND METHODS:Having collected the study material from peripheral blood, by means of trophoblast biopsy or amniocentesis, cytogenetic preparations were obtained, allowing for pre- or postnatal evaluation of the karyotype. A panel of auxiliary cytogenetic techniques accompanied the routine CTG protocol. RESULTS:In a group of 6875 persons with recommendations to pre- or postnatal cytogenetic diagnostics, 14 (0.2%) cases of ESACs were diagnosed. In 5 cases of DA/DAPI(+) inv dup (15) as observed. A presence of polymorphic interstitial RHG(+) band was found within the marker chromosome. The measured size of that band allowed associating it with either the presence or the absence of pathological signs. In 9 cases of ESACs, DA/DAPI(-), the application of banding techniques (NOR and CBG) allowed to discover bisatellite heterochromatic ESACs in 6 cases (2 non-mosaic and 4 mosaic). In three other mosaic and non-satellite cases of ESACs, a 'genetic inactivity' of the marker chromosome was observed in one case, while a 'genetic activity' was ascertained in two cases. The 'activity' of marker chromosomes was studied by means of replication banding techniques. CONCLUSIONS:At the time of the outburst of molecular techniques, still up-to-date is the use of classical banding techniques and of the replication techniques, allowing DNA replication kinetics studies at the level of single band.
journal_name
Med Sci Monitjournal_title
Medical science monitor : international medical journal of experimental and clinical researchauthors
Kałuzewski B,Helszer Z,Constantinou M,Burkholder SW,Coutinho WG,Skorski M,Corridori L,Anderson CE,Sherwood M,Debiec-Rychter M,Jackson LGsubject
Has Abstractpub_date
2001-05-01 00:00:00pages
427-34issue
3eissn
1234-1010issn
1643-3750journal_volume
7pub_type
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
pub_type： 杂志文章
doi：
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
pub_type： 杂志文章
doi：
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
pub_type： 杂志文章
doi：
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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doi：
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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doi：
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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journal_title：Medical science monitor : international medical journal of experimental and clinical research
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doi：
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