Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability
| dc.contributor.author | Syrrou, M. | en |
| dc.contributor.author | Georgiou, I. | en |
| dc.contributor.author | Paschopoulos, M. | en |
| dc.contributor.author | Lolis, D. | en |
| dc.date.accessioned | 2015-11-24T18:52:48Z | |
| dc.date.available | 2015-11-24T18:52:48Z | |
| dc.identifier.issn | 1015-8146 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/18439 | |
| dc.rights | Default Licence | - |
| dc.subject | Abnormalities, Multiple/*genetics | en |
| dc.subject | *Chromosome Aberrations | en |
| dc.subject | Chromosome Fragility | en |
| dc.subject | Dwarfism/genetics | en |
| dc.subject | Fatal Outcome | en |
| dc.subject | Female | en |
| dc.subject | Folic Acid/genetics | en |
| dc.subject | Hematologic Diseases/complications | en |
| dc.subject | Humans | en |
| dc.subject | Infant, Newborn | en |
| dc.subject | Male | en |
| dc.subject | Sister Chromatid Exchange | en |
| dc.subject | Syndrome | en |
| dc.title | Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability | en |
| heal.abstract | In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth deficiency. All patients had chromosome instability, which was employed for the prenatal diagnosis of a fourth fetus suspected as a potential Seckel syndrome patient, and one of them had additional hematological disorders. As this condition has been previously characterized as a Seckel syndrome subgroup we report our data concerning this distinct entity. | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/7794560 | - |
| heal.journalName | Genet Couns | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 1995 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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