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Deletion 22q13.3 syndrome.

Mary C Phelan1

  • 1Cytogenetics Laboratory, Molecular Pathology Laboratory Network, 250 East Broadway, Maryville, TN 37804, USA. kphelan@mplnet.com

Orphanet Journal of Rare Diseases
|May 29, 2008
PubMed
Summary
This summary is machine-generated.

Phelan-McDermid syndrome, a microdeletion on chromosome 22q13.3, causes hypotonia, developmental delays, and speech issues. Early diagnosis and intervention are key for affected individuals.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Phelan-McDermid syndrome (22q13.3 deletion syndrome) is a rare genetic disorder.
  • It is characterized by neonatal hypotonia, global developmental delay, and absent or delayed speech.
  • The syndrome is often under-diagnosed due to limited clinical recognition and testing.

Purpose of the Study:

  • To describe the clinical and genetic features of Phelan-McDermid syndrome.
  • To highlight diagnostic challenges and recommend appropriate testing methods.
  • To outline management strategies and therapeutic interventions.

Main Methods:

  • Review of clinical data and genetic analyses.
  • Description of common physical and behavioral characteristics.
  • Discussion of diagnostic criteria and differential diagnoses.

Main Results:

  • The deletion of 22q13.3, often involving the SHANK3 gene, underlies the syndrome.
  • Common features include hypotonia, developmental delay, speech impairment, and minor dysmorphic features.
  • Autistic-like behaviors and decreased pain perception are frequently observed.

Conclusions:

  • Phelan-McDermid syndrome should be considered in cases of unexplained hypotonia or absent speech.
  • Advanced genetic testing like FISH or array CGH is recommended for diagnosis.
  • Early intervention, therapies, and genetic counseling are crucial for managing affected individuals.