Τίτλος:
Cell proliferation rate and nuclear morphometry in Roberts syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Pavlopoulos, P.M.
Konstantinidou, A.E.
Agapitos, E.
Davaris, P.
Περιοδικό:
Application of Clinical Genetics
Εκδότης:
Blackwell Munksgaard
Λέξεις-κλειδιά:
cycline, article; case report; cell nucleus; cell proliferation; cell ultrastructure; clinical feature; craniofacial malformation; fetus; growth retardation; human; human tissue; hypospadias; immunohistochemistry; meningocele; penis disease; phocomelia; priority journal; Roberts syndrome
DOI:
10.1111/j.1399-0004.1998.tb03772.x
