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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

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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.
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Related Experiment Video

Updated: Jun 7, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid

Erica L Macke1, Anthony R Miller1, Caitlyn M Colwell1

  • 1The Steve and Cindy Rasmussen Institute for Genomic Medicine, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.

American Journal of Medical Genetics. Part A
|November 13, 2024
PubMed
Summary

This study details a neonate with Phelan-McDermid syndrome, characterized by hypotonia, macrocephaly, renal cysts, and severe respiratory failure. Comprehensive genetic testing revealed complex chromosomal rearrangements, expanding the known phenotype of this genetic disorder.

Keywords:
Phelan‐McDermid Syndromelong‐read Sequencingoptical Genome Mappingrapid Genome Sequencing

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Area of Science:

  • Genetics
  • Neonatal Medicine
  • Genomic Medicine

Background:

  • Phelan-McDermid syndrome is a genetic disorder caused by a deletion on chromosome 22, typically affecting the SHANK3 gene.
  • The syndrome is associated with a range of developmental and physical abnormalities.

Observation:

  • A neonate presented with hypotonia, macrocephaly, renal cysts, and severe respiratory failure requiring mechanical ventilation.
  • Rapid genome sequencing identified deletions on chromosomes 4 (PKD2) and 22 (SHANK3), suggesting Phelan-McDermid syndrome.

Findings:

  • Further advanced genetic analyses, including Optical Genome Mapping and long-read sequencing, uncovered complex chromosomal rearrangements: a balanced 3;12 translocation and an unbalanced 17;22 translocation.
  • The patient's severe respiratory failure was attributed to Phelan-McDermid syndrome, representing an expansion of its known clinical manifestations.

Implications:

  • This case highlights the critical role of comprehensive and complementary genetic testing methods in diagnosing complex genetic disorders.
  • Accurate genetic diagnosis is essential for understanding the full spectrum of Phelan-McDermid syndrome phenotypes and guiding clinical management.
  • The study emphasizes the need for advanced genomic technologies to resolve intricate chromosomal abnormalities.