Related Experiment Video

Updated: May 31, 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

Rearrangement of chromosome 14q with associated white matter disease

Vijay Ramaswamy1, François Dominique Jacob, François V Bolduc

  • 1Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.

Pediatric Neurology
|July 19, 2011
PubMed

Insights

A rare de novo chromosome 14q32.31-q32.33 duplication and deletion in a child expands the clinical spectrum of 14q copy number variations. Array-based comparative genomic hybridization identified these genomic lesions in a case of leukodystrophy.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Chromosome 14q duplications and deletions are rare genetic rearrangements associated with specific neurodevelopmental phenotypes.
  • Periventricular white matter changes on MRI can indicate various leukodystrophies, often with complex underlying genetic causes.

Observation:

  • A 29-month-old boy presented with spasticity and periventricular white matter changes.
  • Array-based comparative genomic hybridization revealed a complex rearrangement: a de novo duplication of 14q32.31q32.33 and deletion of 14q32.33.

Findings:

  • The identified genomic lesions expand the known clinical spectrum of chromosome 14q copy number variations.
  • This case highlights pyramidal tract dysfunction signs and specific neuroimaging features associated with this complex rearrangement.

Implications:

  • Genomic lesions, particularly copy number variations, should be considered in the differential diagnosis of unexplained leukodystrophies.
  • Genome-wide studies like array-based comparative genomic hybridization are valuable tools for diagnosing undefined white matter disorders.

More Related Videos

Chromosome Preparation From Cultured Cells07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging11:50

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging

Published on: February 4, 2022

Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Karyotyping01:17

Karyotyping

Overview
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...