Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders

Related Experiment Video

Updated: Oct 2, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

MarcosRobertoHigino Estécio1, Agnes Cristina Fett-Conte, Marileila Varella-Garcia

  • 1Laboratório de Citogenética e Biologia Molecular, Instituto de Bio ciências, Letras e Ciências Exatas-UNESP Campus de São José do Rio Preto, SP, Brazil.

Journal of Autism and Developmental Disorders
|March 28, 2002
PubMed

Insights

Genetic factors are linked to Pervasive Developmental Disorders (PDDs). This study found chromosomal abnormalities in youths with autism and PDDs, suggesting genetic testing is crucial for diagnosis.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Cytogenetics

Background:

  • Pervasive Developmental Disorders (PDDs) are neurodevelopmental conditions characterized by impaired communication and cognitive development.
  • Genetic factors are increasingly recognized as contributors to PDDs, particularly in autism spectrum disorders.

Purpose of the Study:

  • To evaluate cytogenetic and molecular parameters in a cohort of 30 youths diagnosed with autism or other PDDs.
  • To investigate the association between chromosomal abnormalities and PDDs.

Main Methods:

  • Cytogenetic analysis was performed on 30 youths with PDDs.
  • Molecular testing was utilized to identify specific genetic abnormalities.

Main Results:

  • Fragile X syndrome was the most frequent genetic abnormality identified.
  • Tetrasomy for the 15q11-q13 region was detected in one patient with PDD-NOS.
  • Mosaicism or a coincidental finding of inv(7)(p35q36) was observed in one patient with autism.

Conclusions:

  • The high frequency of detected chromosomopathies supports the hypothesis that chromosomal abnormalities contribute to the development of PDDs.
  • Routine cytogenetic and molecular assessment is recommended for all patients with PDDs to aid in diagnosis.

More Related Videos

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Related Concept Videos

Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pedigree Analysis02:21

Pedigree Analysis

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...