01 April 2004
Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardationEwa Bocian, Zofia Hélias-Rodzewicz, Kamila Suchenek, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Paweł Stankiewicz, Ewa Kostyk, Tadeusz Mazurczak
Med Sci Monit 2004; 10(4): CR143-151 :: ID: 11636
Background:The etiology of mental retardation (MR) is unexplained in at least 50% of cases. Recently it was shown that subtle telomeric rearrangements may be a common cause of idiopathic mental retardation (IMR).Material/Methods: We studied 84 families with IMR and unspecific clinical features suggesting chromosomal aberration, including 59 patients with moderate to severe MR and 24 with mild MR. One healthy father of three deceased, severely MR children was also included. Fluorescence in situ hybridization (FISH) using 41 subtelomeric probes (the Chromoprobe Multiprobe[sub]®[/sub] – T System) was performed in all patients.Results: Ten (11.9%) subtle chromosome rearrangements were identified. Nine (10.7%) were subtelomeric abnormalities. Seven were familial, with six of paternal origin. All but one were products of parental balanced reciprocal translocation or inversion. Retrospective G-banding analysis showed that six of the nine rearrangements could be seen or suspected at the 450–550 band levels. Subtelomeric abnormalities were recognized in six patients with severe/moderate (including the father of children with severe MR) and in three with mild MR.Conclusions: Our results confirm previous findings on the importance of subtelomeric rearrangements in the etiology of MR. They also show the diagnostic utility of subtelomeric FISH in detecting subtle telomeric rearrangements in IMR cases. The high proportion of familial rearrangements emphasizes their importance for genetic counseling. FISH screening was more reliable and efficient in identifying subtle telomeric abnormalities than G-banding analysis. However, as many of the subtelomeric abnormalities could be detected in retrospect even at the 550 band level, high-resolution G-banding analysis should always precede subtelomere assay. This is important for a better estimation of the real frequency of cryptic subtelomeric abnormalities.
Keywords: Chromosome Aberrations, Chromosome Disorders - genetics, DNA Probes - chemistry, In Situ Hybridization, Fluorescence, Karyotyping, Mental Retardation - genetics, Telomere - genetics, Chromosome Aberrations, Chromosome Disorders - genetics, DNA Probes - chemistry, In Situ Hybridization, Fluorescence, Intellectual Disability - genetics, Karyotyping, Telomere - genetics
01 March 2023 : EditorialEditorial: Global Surveillance of Highly Pathogenic Avian Influenza Viruses in Poultry, Wild Birds, and Mammals to Prevent a Human Influenza Pandemic
Med Sci Monit 2023; 29:e939968
09 February 2023 : Clinical ResearchEvaluation of Health-Related Quality of Life and Mental Health in 729 Medical Students in Indonesia During ...
Med Sci Monit 2023; 29:e938892
19 January 2023 : Clinical ResearchDetermining the Impact of the COVID-19 Pandemic on Dental Care in the Serbian Adult Population: An Online Q...
Med Sci Monit 2023; 29:e939238
27 December 2022 : Clinical ResearchEffect of Physiotherapy to Correct Rounded Shoulder Posture in 30 Patients During the COVID-19 Pandemic in ...
Med Sci Monit 2022; 28:e938926
10 December 2022 : Clinical ResearchRetrospective Study to Identify Risk Factors for Severe Disease and Mortality Using the Modified Early Warn...
Med Sci Monit 2022; 28:e938647
24 Mar 2023 : Database AnalysisCauses of Death Following Gastric Cancer Diagnosis: A Population-Based Analysis
Med Sci Monit In Press; DOI: 10.12659/MSM.939848
22 Mar 2023 : Special reportOne Year On: Poland’s Public Health Initiatives and National Response to Millions of Refugees from Ukraine
Med Sci Monit In Press; DOI: 10.12659/MSM.940223
22 Mar 2023 : Clinical ResearchValue of IL-1β and IL-23 in Predicting 28-Day Mortality Due to Sepsis: A Retrospective Study
Med Sci Monit In Press; DOI: 10.12659/MSM.940163
21 Mar 2023 : Clinical ResearchEfficacy of Direct Anterior Approach Versus Posterior Lateral Approach for Total Hip Replacement in Patient...
Med Sci Monit In Press; DOI: 10.12659/MSM.939682
Most Viewed Current Articles
13 Nov 2021 : Clinical ResearchAcceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...
Med Sci Monit 2021; 27:e932788
30 Dec 2021 : Clinical ResearchRetrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...
Med Sci Monit 2021; 27:e935379
08 Mar 2022 : Review articleA Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...
Med Sci Monit 2022; 28:e936292
01 Jan 2022 : EditorialEditorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...
Med Sci Monit 2022; 28:e935952