Search Results - "Kefalas, K."

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement by Manolakos, E, Vetro, A, Papadopoulou, E, Kefalas, K, Lagou, M, Thomaidis, L, Peitsidis, P, Sifakis, S, Divane, A, Ziegler, M, Liehr, T, Zuffardi, O, Papoulidis, I

“…We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from…”
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De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia by Papoulidis, I., Vetro, A., Kefalas, K., Orru, S., Thomaidis, L., Iliodromiti, Z., Zuffardi, O., Manolakos, E.

“…We describe a case of a 34-year-old male presenting with oligospermia and an otherwise normal phenotype. Investigation with array-based comparative genomic…”
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Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization by Manolakos, E, Kefalas, K, Neroutsou, R, Lagou, M, Kosyakova, N, Ewers, E, Ziegler, M, Weise, A, Tsoplou, P, Rapti, S M, Papoulidis, I, Anastasakis, E, Garas, A, Sotiriou, S, Eleftheriades, M, Peitsidis, P, Malathrakis, D, Thomaidis, L, Kitsos, G, Orru, S, Liehr, T, Petersen, M B, Kitsiou-Tzeli, S

“…Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until…”
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