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

Molecular Cytogenetics

Elisavet Siomou¹  Emmanouil Manolakos¹  Ioannis Papoulidis¹  Dionysios Vrachnis²  Nikolaos Loukas³  Efterpi Pavlidou⁴  Zoi Iliodromiti⁵  Dimitrios Zygouris⁶  Loretta Thomaidis⁷  Stavroula Oikonomou⁷  Nikolaos Antonakopoulos⁸  Nikolaos Vrachnis⁹ 

[1] Access To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece;Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Medical School, Alexandra Hospital, Athens, Greece;Department of Gynecology, General Hospital of Athens “G. Gennimatas”, Athens, Greece;Department of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece;Neonatal Department, National and Kapodistrian University of Athens Medical School, Aretaieio Hospital, Athens, Greece;Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece;Second Department of Pediatrics, Aglaia Kyriakou Hospital, Medical School, National & Kapodistrian University of Athens, Athens, Greece;Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece;Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece;Third Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece;Research Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece;Vascular Biology, Molecular and Clinical Sciences Research Institute, St George’s University of London, London, UK;

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

DOI  :  10.1186/s13039-021-00557-y

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY