Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology
AuthorPatsalis, Philippos C.
Hadjimarcou, Michael I.
Rose, Nancy C.
Anastasiadou, Violetta C.
Constantinou-Deltas, Constantinos D.
Middleton, Lefkos T.
Google Scholar check
MetadataShow full item record
The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, and by molecular methods for the Fragile X syndrome pathology. Specialized physicians examined all institutionalized or non institutionalized patients throughout Cyprus. Cytogenetic analysis was carried out on 105 individuals, six of which showed various chromosomal aberrations. PCR and Southern blot analysis were carried out on 170 patients referred for exclusion of the Fragile X syndrome. Three patients had positive findings. Although the number of cases elucidated with this general approach was not spectacular, it allowed the resolution of a few clinically equivocal cases, to the satisfaction of the clinicians and, most importantly, the relatives involved. We believe that such screening programs should continue until all cases are thouroughly examined, thus providing definite genetic counseling and psychological support, at least in those cases that are clearly resolved. Equally important is the prospect for prevention through prenatal diagnostic programs, that are already available for such conditions.
Showing items related by title, author, creator and subject.
A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR Patsalis, Philippos C.; Tsaliki, Evdokia; Koumbaris, George L.; Karagrigoriou, Alex; Velissariou, Voula; Papageorgiou, Elisavet A. (2012)Introduction: Non-invasive prenatal diagnosis (NIPD) of Down syndrome is rapidly evolving. Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results
Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Pierides, Alkis M. (1995)
Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...