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

Nikolaos Vrachnis,Nikolaos Loukas,Efterpi Pavlidou,Dimitrios Zygouris,Emmanouil Manolakos,Zoi Iliodromiti,Stavroula Oikonomou,Ioannis Papoulidis,Elisavet Siomou,Nikolaos Antonakopoulos,Dionysios Vrachnis,Loretta Thomaidis

doi:10.1186/s13039-021-00557-y

Abstract

BackgroundThe interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways.Case presentationWe report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes.ConclusionsIdentification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.

Highlights

The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development
Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion
We report a case of interstitial deletion of chromosome 6p investigated by array-CGH in a 2.8-year old boy with developmental delay, mild facial dysmorphism, and speech communication disorders

Summary

Conclusions

Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.

Background

Discussion

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