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Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p

Katarzyna Gawlik-Kuklinska1, Jolanta Wierzba, Agnieszka Wozniak

  • 1Department of Biology and Genetics, Medical University of Gdansk, ul. Debinki 1, 80-211 Gdansk, Poland.

European Journal of Medical Genetics
|February 5, 2008
PubMed

Insights

This study details a boy with a proximal 4p deletion, identified via array comparative genomic hybridization. The findings contribute to understanding 4p deletion syndrome, including associated neurological issues like periventricular heterotopia.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Proximal 4p deletion syndrome is a rare genetic disorder.
  • Characterized by intellectual disability, distinct facial features, and developmental anomalies.

Observation:

  • A 4-year-old boy presented with a 4p14p15.32 deletion and 9p13q13 inversion.
  • Array comparative genomic hybridization (a-CGH) precisely mapped the deletion.
  • The patient exhibited features consistent with 4p deletion syndrome and developed periventricular heterotopia.

Findings:

  • The patient's karyotype was 46,XY,del(4)(p14p15.32),inv(9)(p13q13).
  • a-CGH analysis confirmed the proximal interstitial deletion on chromosome 4 short arm.
  • Phenotypic correlation with existing literature on 4p deletion syndrome was performed.

Implications:

  • This case refines the understanding of the 4p deletion syndrome critical region.
  • Highlights the association between proximal 4p deletions and neuronal migration defects, such as periventricular heterotopia.
  • Contributes to the clinical and genetic characterization of rare chromosomal disorders.

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