Related Experiment Video

Updated: Aug 23, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Proteus syndrome and somatic mosaicism of the chromosome 16

M T Cardoso1, T Bunte de Carvalho, L A Casulari

  • 1Genetic and Morphological Department of Biological Science, UNB, Brasília, DF and Escola Superior em Ciências da Saúde, Brasília, DF, Brazil. roxomotta@ambr.com.br

Panminerva Medica
|June 23, 2004
PubMed

Insights

This study reports the first case of Proteus syndrome linked to a chromosome 16 anomaly, challenging previous associations with chromosome 1. These findings suggest chromosome 16 may host genes crucial for Proteus syndrome development.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pathology

Background:

  • Proteus syndrome is a rare overgrowth disorder with complex etiology.
  • Previous research suggested a link between Proteus syndrome and chromosome 1 alterations.

Observation:

  • This study details clinical and pathological findings in a patient exhibiting Proteus syndrome.
  • The patient presented with a mosaic structural anomaly of chromosome 16.

Findings:

  • This is the first documented report associating Proteus syndrome with a chromosome 16 anomaly.
  • The mosaic chromosomal abnormality in chromosome 16 provides new insights into the genetic basis of Proteus syndrome.

Implications:

  • The identified chromosome 16 anomaly may indicate the location of genes involved in Proteus syndrome.
  • This discovery refines our understanding of the genetic underpinnings of Proteus syndrome, potentially involving somatic mosaicism and growth factor regulation.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

High-throughput Screening for Protein-based Inheritance in S. cerevisiae08:12

High-throughput Screening for Protein-based Inheritance in S. cerevisiae

Published on: August 8, 2017

Related Concept Videos

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...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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...
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...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...