Related Experiment Video

Updated: Jun 25, 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

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

A L Mosca1, P Callier, L Faivre

  • 1Département de Génétique, CHU le Bocage, Dijon, France. moscaal@yahoo.fr

American Journal of Medical Genetics. Part A
|February 13, 2009
PubMed

Insights

Polymicrogyria (PMG) pathogenesis is unclear. This study identifies a 22q11.2 microduplication in a patient with PMG, highlighting the 22q11 region's role and BACs-array efficiency.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Polymicrogyria (PMG) is a common cortical malformation with poorly understood causes.
  • Over 70 PMG cases are linked to chromosomal abnormalities, suggesting a genetic component.
  • The 22q11.2 region is implicated in various neurodevelopmental disorders.

Observation:

  • A 12-year-old girl presented with asymmetrical polymicrogyria (PMG) affecting the right occipital lobe.
  • The patient exhibited mental retardation, speech delay, and seizures.
  • She was the only child of consanguineous parents.

Findings:

  • Cytogenetic studies revealed an inverted 9p duplication/deletion in the patient.
  • Bacterial artificial chromosomes (BACs)-array analysis identified a 22q11.2 microduplication, confirmed by quantitative PCR.
  • This complex chromosomal rearrangement provides insights into PMG etiology.

Implications:

  • The findings emphasize the 22q11 region's significance in polymicrogyria (PMG) pathogenesis.
  • This case highlights the utility of BACs-array in detecting complex chromosomal rearrangements.
  • Further research into candidate genes within the identified region is warranted to understand PMG development.

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

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Related Concept Videos

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...
Cancer Cell Migration through Invadopodia01:35

Cancer Cell Migration through Invadopodia

Invadosome is a broad category of cell surface structures with proteolytic activity that  degrades the extracellular matrix (ECM). Invadosomes are present in normal cell types, including macrophages, endothelial cells, and neurons, as well as tumor cells. Although the macrophage podosomes and tumor cell invadopodia are classified as invadosomes, they have different structures, molecular pathways, and functions. Podosomes are short structures that last for a few minutes. However, invadopodia can...
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...
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,...
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...
Centrosome Duplication02:25

Centrosome Duplication

The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
To ensure that each daughter cell receives a centrosome after cell division, centrosome duplication...