@article{3030214,
    title = "Partial deletion of chromosome 6p causing developmental delay and mild
dysmorphisms in a child: molecular and developmental investigation and
literature search",
    author = "Vrachnis, Nikolaos and Papoulidis, Ioannis and Vrachnis, Dionysios and and Siomou, Elisavet and Antonakopoulos, Nikolaos and Oikonomou, Stavroula and and Zygouris, Dimitrios and Loukas, Nikolaos and Iliodromiti, Zoi and and Pavlidou, Efterpi and Thomaidis, Loretta and Manolakos, Emmanouil",
    journal = "Molecular Cytogenetics",
    year = "2021",
    volume = "14",
    number = "1",
    publisher = "BMC",
    issn = "1755-8166",
    doi = "10.1186/s13039-021-00557-y",
    keywords = "6p22; 3 deletion; Syndrome; Developmental delay; Intellectual
disability; Dysmorphism; Behavioral abnormalities; High-resolution
microarray analysis",
    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."
}