Related Experiment Video

Updated: Aug 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p

L Zwaigenbaum1, L K Sonnenberg, T Heshka

  • 1Pediatrics, Hamilton Health Sciences and McMaster University, Hamilton, Ont., Canada.

Journal of Autism and Developmental Disorders
|August 27, 2005
PubMed

Insights

A rare complex chromosome rearrangement in a 4-year-old girl with pervasive developmental disorder (PDD) highlights potential genetic links. Aberrations in chromosomes 8p and 10p may contribute to developmental delays and distinctive facial features.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Complex chromosome rearrangements (CCRs) are rare structural variations that can lead to diverse clinical phenotypes.
  • Pervasive developmental disorder (PDD) is a group of neurodevelopmental disorders characterized by difficulties in social interaction, communication, and behavior.
  • Velopharyngeal insufficiency (VPI) is a condition affecting speech, often associated with hypernasality.

Observation:

  • A 4-year-old girl presented with VPI, distinctive facial features (long face, broad nasal bridge, protuberant ears), bifid uvula, strabismus, and joint laxity.
  • She exhibited developmental delay, with language and cognitive skills significantly below average, meeting criteria for PDD.
  • Her karyotype revealed a de novo, apparently balanced CCR involving chromosomes 8 and 10: 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter).
  • Fluorescence in situ hybridization (FISH) analysis excluded microdeletions at 22q11.2 and 10p13p14.

Findings:

  • The CCR involved translocations and insertions between chromosome segments 8p12, 8p21.3, 10p11.23, and 10p12.32.
  • The patient displayed autistic behaviors, including poor eye contact, atypical communication, repetitive behaviors, and sensory processing difficulties.
  • The findings suggest a potential correlation between specific chromosomal aberrations at 8p12, 8p21.3, 10p11.23, and/or 10p12.32 and the development of PDD with associated cognitive and facial anomalies.

Implications:

  • This case underscores the importance of detailed cytogenetic analysis in diagnosing complex developmental disorders.
  • Identifying specific chromosomal regions involved in CCRs can improve our understanding of genotype-phenotype correlations in neurodevelopmental disorders.
  • Further research into these chromosomal regions may reveal novel genetic factors contributing to PDD and associated dysmorphic features.

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

FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Related Concept Videos

Karyotyping01:17

Karyotyping

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...
Karyotyping01:17

Karyotyping

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...
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...
Chromosome Duplication02:05

Chromosome Duplication

The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
The basic unit of the chromatin is the nucleosome, consisting of DNA wrapped around octameric histone proteins and short stretches of linker DNA separating individual nucleosomes. The histone proteins within the nucleosome have their...
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.
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...