Extra structurally abnormal chromosomes (ESACs) – presentation of 10 new cases
Bogdan Kałużewski, Zofia Helszer, Maria Constantinou, Susan W. Burkholder, William G. Coutinho, Maria Skorski, Linda Corridori, Carol E. Anderson, Marge Sherwood, Maria Dębiec-Rychter, Laird G. JacksonMed Sci Monit 2001; 7(3): CR427-434 :: ID: 510088
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/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.
Keywords: supernumerary marker chromosomes, phenotypic prognosis
Editorial
01 January 2026 : Editorial
Editorial: Increasing Awareness of Lung Cancer in Non-Smokers and Never-Smokers Challenges Current Approaches to Prevention and ScreeningDOI: 10.12659/MSM.952454
Med Sci Monit 2026; 32:e952454
In Press
Clinical Research
Institutional and Regional Variations in Access to Clinical Trials and Next-Generation Sequencing in Turkis...Med Sci Monit In Press; DOI: 10.12659/MSM.951027
Clinical Research
Low-Intensity Blood Flow-Restricted Multi-Joint Exercise Improves Muscle Function in Patients With Patellof...Med Sci Monit In Press; DOI: 10.12659/MSM.950516
Review article
Musculoskeletal Ultrasound and MRI in the Evaluation of Chemotherapy-Induced Peripheral Neuropathy: A ReviewMed Sci Monit In Press; DOI: 10.12659/MSM.951283
Clinical Research
Sensory Processing, Dissociation, and Affective Symptoms in Misophonia: A Cross-Sectional Study of 35 AdultsMed Sci Monit In Press; DOI: 10.12659/MSM.950938
Most Viewed Current Articles
17 Jan 2024 : Review article 10,187,196
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
13 Nov 2021 : Clinical Research 3,708,487
Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...DOI :10.12659/MSM.932788
Med Sci Monit 2021; 27:e932788
14 Dec 2022 : Clinical Research 2,341,643
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research 706,524
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387






