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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...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mutations01:39

Mutations

Overview
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Updated: Jul 3, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

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Published on: February 21, 2015

Private inherited microdeletion/microduplications: implications in clinical practice.

Maria Antonietta Mencarelli1, Eleni Katzaki, Filomena Tiziana Papa

  • 1Medical Genetics, Molecular Biology Department, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

European Journal of Medical Genetics
|July 29, 2008
PubMed
Summary

Array comparative genomic hybridization (array-CGH) identifies new genomic disorders but poses diagnostic challenges. Inherited copy number variations (CNVs) from healthy parents may impact phenotype, requiring careful evaluation.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Array comparative genomic hybridization (array-CGH) is a high-resolution technique for identifying genomic disorders.
  • This technology presents diagnostic challenges, particularly with inherited copy number variations (CNVs) of uncertain clinical significance.
  • Understanding the inheritance and impact of private CNVs is crucial for accurate genetic diagnosis.

Purpose of the Study:

  • To investigate the clinical significance of private CNVs identified through array-CGH in patients with mental retardation and congenital anomalies.
  • To determine whether CNVs inherited from healthy parents can be associated with phenotypic abnormalities.
  • To assess the diagnostic challenges posed by inherited CNVs in genetic testing.

Main Methods:

  • Oligo array-CGH analysis was performed on 84 patients with mental retardation and multiple congenital anomalies.
  • Inherited CNVs were identified by comparing patient data with that of their healthy parents.
  • CNVs were characterized based on size, location, gene content, and overlap with polymorphic regions.

Main Results:

  • Ten private CNVs (3 deletions, 7 duplications) ranging from 0.1 to 3.8 Mb were inherited from healthy parents.
  • Six rearrangements were non-polymorphic, while four overlapped polymorphic regions (10-61%).
  • Three disease-associated genes (KAL1, STS, TCF2) were identified within the CNVs in three patients, with one patient exhibiting sex reversal, Peters' anomaly, and renal cysts.

Conclusions:

  • Inherited CNVs from healthy parents can be associated with phenotypic abnormalities, suggesting a complex genetic mechanism.
  • Caution is advised when classifying chromosomal abnormalities inherited from parents as benign.
  • Further investigation into concurrent variations or epigenetic factors may be necessary to fully understand the phenotype-genotype correlation.