Related Experiment Video
Updated: Jun 22, 2026
08:01
Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays
Published on: December 13, 2013
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Elga F Belligni1, Elisa Biamino, Cristina Molinatto
1Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy. margherita.cirillosilengo@unito.it.
Italian Journal of Pediatrics
|June 4, 2009
Summary
Subtelomeric FISH analysis identified cryptic chromosomal anomalies in 13.16% of children with developmental delay or intellectual disability. Careful clinical evaluation aids in selecting patients for genomic analysis, improving detection rates.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Intellectual disability (ID) affects 1-3% of the population, with genetic factors implicated in half of cases.
- Cryptic subtelomeric aberrations are found in 5-7% of individuals with ID.
- The precise genetic causes of ID remain largely unknown.
Purpose of the Study:
- To investigate the utility of subtelomeric FISH analysis in identifying chromosomal anomalies in children with developmental delay or intellectual disability.
- To assess the role of clinical features in pre-selecting patients for genomic analysis.
Main Methods:
- Subtelomeric FISH analysis was performed on 76 unrelated children.
- Patients were selected based on normal standard karyotype, developmental delay or intellectual disability, and presence of congenital malformations and/or facial dysmorphisms.
Main Results:
- Ten cryptic chromosomal anomalies were detected, representing a 13.16% detection rate in the cohort.
- Eight anomalies were found in patients with developmental delay/intellectual disability, congenital malformations, and facial dysmorphisms.
- Two anomalies were identified in patients with developmental delay/intellectual disability and facial dysmorphisms only.
Conclusions:
- A thorough clinical examination is crucial for pre-selecting patients for genomic analysis, significantly increasing the detection rate of chromosomal anomalies.
- Observed clinical features align with emerging chromosome phenotypes, suggesting new clinical syndromes associated with specific genomic imbalances.
Related Concept Videos
01:29Intellectual Disability
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
02:07FISH - Fluorescent In-situ Hybridization
Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...