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Cell proliferation rate and nuclear morphometry in Roberts syndrome

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Cell proliferation rate and nuclear morphometry in Roberts syndrome (EN)
Konstantinidou, AE (EN)
Davaris, P (EN)
Pavlopoulos, PM (EN)
Agapitos, E (EN)
journalArticle (EN)
2014-03-01T01:47:33Z
1998 (EN)
Roberts syndrome (RS) is a rare autosomal recessive disorder characterized primarily by symmetric reduction anomalies of all limbs, growth retardation and craniofacial abnormalities. Most RS patients are reported to present a typical abnormality of their constitutive heterochromatin, accompanied by abnormal cytological growth characteristics. We present an extremely severe case of an RS fetus, karyotypically documented, with a clinical presentation including growth deficiency, tetraphocomelia, frontal meningocele, craniofacial abnormalities and penile enlargement with hypospadias. Nuclear morphometrical analysis in tissues of various organs revealed a reduced nuclear size in RS as compared to normal controls, and statistically significant differences in morphometric parameters related to the nuclear shape. Immunohistochemical study of the same organs showed a reduced expression of proliferating cell nuclear antigen in the presented case, thus indicating a decreased cell proliferation rate in RS. Our results reconfirm previously reported findings in cultured fibroblasts of RS cases, thereby reinforcing on a histologic level, the hypothesis that reduced cell proliferation may be involved in the growth retardation and the reduction abnormalities observed in RS. (EN)
Genetics & Heredity (EN)
proliferating cell nuclear antigen (EN)
Roberts syndrome (EN)
ABNORMALITIES (EN)
meningocele (EN)
SC-PHOCOMELIA SYNDROME (EN)
nuclear morphometry (EN)
tetraphocomelia (EN)
growth retardation (EN)
SC phocomelia (EN)
premature centromere separation (EN)
CLINICAL GENETICS (EN)
English
MUNKSGAARD INT PUBL LTD (EN)
National Technical University of Athens
Digital Library of National Technical University of Athens | Dspace@NTUA
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