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

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

doi:10.1186/s13039-021-00557-y

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

Mol Cytogenet. 2021 Jul 24;14(1):39. doi: 10.1186/s13039-021-00557-y.

Authors

Affiliations

¹ Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece. nvrachnis@hotmail.com.
² Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece. nvrachnis@hotmail.com.
³ Vascular Biology, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK. nvrachnis@hotmail.com.
⁴ Access To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
⁵ Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Medical School, Alexandra Hospital, Athens, Greece.
⁶ Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece.
⁷ Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece.
⁸ Second Department of Pediatrics, Aglaia Kyriakou Hospital, Medical School, National & Kapodistrian University of Athens, Athens, Greece.
⁹ Department of Gynecology, General Hospital of Athens "G. Gennimatas", Athens, Greece.
¹⁰ Neonatal Department, National and Kapodistrian University of Athens Medical School, Aretaieio Hospital, Athens, Greece.
¹¹ Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece.

Abstract

Background: The 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 presentation: We 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.

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.

Keywords: 6p22.3 deletion; Behavioral abnormalities; Developmental delay; Dysmorphism; High-resolution microarray analysis; Intellectual disability; Syndrome.