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Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and

Nikolaos Vrachnis1,2,3, Ioannis Papoulidis4, Dionysios Vrachnis5

  • 1Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece. nvrachnis@hotmail.com.

Molecular Cytogenetics
|July 25, 2021
PubMed

Insights

Interstitial 6p22.3 deletions are rare chromosomal events impacting development. Analyzing cases with mild features enhances understanding of this deletion syndrome's genetic spectrum.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Interstitial 6p22.3 deletions are rare chromosomal abnormalities.
  • These deletions affect physical and mental development.
  • The syndrome results from partial deletion of chromosome 6.

Purpose of the Study:

  • To report a case of interstitial 6p22.3 deletion.
  • To contribute to understanding the genetic spectrum of this syndrome.
  • To analyze cases with mild phenotypic features.

Main Methods:

  • Case report of a 2.8-year-old boy.
  • High-resolution oligonucleotide microarray analysis.
  • Precise identification of a 2.5 Mb interstitial 6p deletion in the 6p22.3 region.

Main Results:

  • The deletion encompassed 13 genes.
  • The patient presented with developmental delay and mild dysmorphisms.
  • Detailed genetic analysis was performed.

Conclusions:

  • Further analysis of mild cases is crucial.
  • Understanding the genetic spectrum of 6p22.3 deletion syndrome is enhanced.
  • This study contributes to the characterization of rare chromosomal events.
Abstract

Keywords:
6p22.3 deletionBehavioral abnormalitiesDevelopmental delayDysmorphismHigh-resolution microarray analysisIntellectual disabilitySyndrome

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