Cell proliferation rate and nuclear morphometry in Roberts syndrome

Pavlopoulos, PM; Konstantinidou, AE; Agapitos, E; Davaris, P

dc.contributor.author	Pavlopoulos, PM	en
dc.contributor.author	Konstantinidou, AE	en
dc.contributor.author	Agapitos, E	en
dc.contributor.author	Davaris, P	en
dc.date.accessioned	2014-03-01T01:47:33Z
dc.date.available	2014-03-01T01:47:33Z
dc.date.issued	1998	en
dc.identifier.issn	0009-9163	en
dc.identifier.uri	https://dspace.lib.ntua.gr/xmlui/handle/123456789/25256
dc.subject	growth retardation	en
dc.subject	meningocele	en
dc.subject	nuclear morphometry	en
dc.subject	premature centromere separation	en
dc.subject	proliferating cell nuclear antigen	en
dc.subject	Roberts syndrome	en
dc.subject	SC phocomelia	en
dc.subject	tetraphocomelia	en
dc.subject.classification	Genetics & Heredity	en
dc.subject.other	SC-PHOCOMELIA SYNDROME	en
dc.subject.other	ABNORMALITIES	en
dc.title	Cell proliferation rate and nuclear morphometry in Roberts syndrome	en
heal.type	journalArticle	en
heal.language	English	en
heal.publicationDate	1998	en
heal.abstract	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
heal.publisher	MUNKSGAARD INT PUBL LTD	en
heal.journalName	CLINICAL GENETICS	en
dc.identifier.isi	ISI:000077827700008	en
dc.identifier.volume	54	en
dc.identifier.issue	6	en
dc.identifier.spage	512	en
dc.identifier.epage	516	en