Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 April 2004

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Ewa 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

Abstract

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

Add Comment 0 Comments

Editorial

01 May 2024 : Editorial  

Editorial: First Regulatory Approval for Adoptive Cell Therapy with Autologous Tumor-Infiltrating Lymphocytes (TILs) – Lifileucel (Amtagvi)

Dinah V. Parums

DOI: 10.12659/MSM.944927

Med Sci Monit 2024; 30:e944927

In Press

17 Mar 2024 : Clinical Research  

Protective Role of TRPC3 Gene Polymorphism (rs10518289) in Obstructive Sleep Apnea Hypopnea Syndrome Among ...

Med Sci Monit In Press; DOI: 10.12659/MSM.942667  

0:00

27 Mar 2024 : Clinical Research  

Impact of Patient Education Formats on Treatment Adherence and Denture Hygiene in Edentulous Patients: A Co...

Med Sci Monit In Press; DOI: 10.12659/MSM.944175  

27 Mar 2024 : Clinical Research  

Incidence, Risk Factors, and Outcomes of Left Atrial Enlargement in Patients Requiring Right Ventricular Pa...

Med Sci Monit In Press; DOI: 10.12659/MSM.944114  

15 May 2024 : Database Analysis  

MRTO4 Enhances Glycolysis to Facilitate HCC Progression by Inhibiting ALDOB

Med Sci Monit In Press; DOI: 10.12659/MSM.944685  

Most Viewed Current Articles

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

16 May 2023 : Clinical Research  

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

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750