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