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Related Experiment Videos

22q13 deletion syndrome.

M C Phelan1, R C Rogers, R A Saul

  • 1Greenwood Genetic Center, Greenwood, South Carolina, USA.phelank@erlanger.org

American Journal of Medical Genetics
|June 8, 2001
PubMed
Summary
This summary is machine-generated.

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Deletion 22q13 syndrome is characterized by developmental delay, hypotonia, and speech issues. This genetic condition can be subtle and requires advanced testing for accurate diagnosis in affected individuals.

Area of Science:

  • Genetics
  • Clinical Medicine
  • Developmental Biology

Background:

  • 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder.
  • It results from a terminal deletion on the long arm of chromosome 22.
  • This deletion can lead to a spectrum of developmental and physical features.

Purpose of the Study:

  • To describe the clinical features of 22q13 deletion syndrome.
  • To compare newly identified cases with previously reported individuals.
  • To highlight diagnostic challenges and recommend appropriate testing methods.

Main Methods:

  • Clinical data collection from 37 individuals with 22q13 deletion.
  • Comparison with 24 previously reported cases in the literature.

Related Experiment Videos

  • Review of cytogenetic and molecular analyses, including high-resolution chromosome analysis and fluorescence in situ hybridization (FISH).

    • Main Results:

    • Key features include global developmental delay, generalized hypotonia, absent/delayed speech, and normal to advanced growth.
    • Minor anomalies observed: dolicocephaly, abnormal ears, ptosis, dysplastic toenails, large hands.
    • The deletion is often subtle, with 32% of cases missed by routine cytogenetic analysis.
    • Eight individuals had deletions secondary to unbalanced translocations.

    Conclusions:

    • 22q13 deletion syndrome should be considered in newborns with unexplained hypotonia and in older children with developmental delay, speech issues, and minor dysmorphic features.
    • High-resolution chromosome analysis and FISH or molecular testing are recommended for diagnosis.
    • Early and accurate diagnosis is crucial for appropriate management and support.