Parcourir par auteur "Siomou, E."
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Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay
Papoulidis, I.; Paspaliaris, V.; Papageorgiou, E.; Siomou, E.; Dagklis, T.; Sotiriou, S.; Thomaidis, L.; Manolakos, E. (2015)A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, ... -
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
Papoulidis, I.; Paspaliaris, V.; Siomou, E.; Orru, S.; Murru, R.; Sifakis, S.; Nikolaidis, P.; Garas, A.; Sotiriou, S.; Thomaidis, L.; Manolakos, E. (2015)Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The ...