Browsing by Author "Vetro, A."
Now showing items 1-4 of 4
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Deletion 2q31.2-q31.3 in a 4-Year-Old Girl With Microcephaly and Severe Mental Retardation
Manolakos, E.; Vetro, A.; Kefalas, K.; Thomaidis, L.; Aperis, G.; Sotiriou, S.; Kitsos, G.; Merkas, M.; Sifakis, S.; Papoulidis, I.; Liehr, T.; Zuffardi, O.; Petersen, M. B. (2011) -
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Sifakis, S.; Manolakos, E.; Vetro, A.; Kappou, D.; Peitsidis, P.; Kontodiou, M.; Garas, A.; Vrachnis, N.; Konstandinidou, A.; Zuffardi, O.; Orru, S.; Papoulidis, I. (2012)Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of ... -
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
Manolakos, E.; Vetro, A.; Garas, A.; Thomaidis, L.; Kefalas, K.; Kitsos, G.; Ziegler, M.; Liehr, T.; Zuffardi, O.; Papoulidis, I. (2014)Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common ... -
The use of array-CGH in a cohort of Greek children with developmental delay
Manolakos, E.; Vetro, A.; Kefalas, K.; Rapti, S. M.; Louizou, E.; Garas, A.; Kitsos, G.; Vasileiadis, L.; Tsoplou, P.; Eleftheriades, M.; Peitsidis, P.; Orru, S.; Liehr, T.; Petersen, M. B.; Thomaidis, L. (2010)Background: The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for ...