TY - JOUR
TI - Partial deletion of chromosome 6p causing developmental delay and mild
dysmorphisms in a child: molecular and developmental investigation and
literature search
AU - Vrachnis, Nikolaos
AU - Papoulidis, Ioannis
AU - Vrachnis, Dionysios and
AU - Siomou, Elisavet
AU - Antonakopoulos, Nikolaos
AU - Oikonomou, Stavroula
AU - and Zygouris, Dimitrios
AU - Loukas, Nikolaos
AU - Iliodromiti, Zoi and
AU - Pavlidou, Efterpi
AU - Thomaidis, Loretta
AU - Manolakos, Emmanouil
JO - Molecular Cytogenetics
PY - 2021
VL - 14
TODO - 1
SP - null
PB - BMC
SN - 1755-8166
TODO - 10.1186/s13039-021-00557-y
TODO - 6p22; 3 deletion; Syndrome; Developmental delay; Intellectual
disability; Dysmorphism; Behavioral abnormalities; High-resolution
microarray analysis
TODO - 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.
ER -