PRENATAL DIAGNOSIS OF ROBERTS SYNDROME: TWO NEW CASES

Autor:	J. B. Savary, M. Bucourt, J. Gonzales, S. Manouvrier, Brigitte Benzacken
Rok vydání:	1996
Předmět:	medicine.medical_specialty Pediatrics Pathology Fetus Cytogenetics Obstetrics and Gynecology Karyotype Prenatal diagnosis Phocomelia Biology medicine.disease medicine Abnormality Roberts syndrome Chromosome separation Genetics (clinical)
Zdroj:	Prenatal Diagnosis. 16:125-130
ISSN:	1097-0223 0197-3851
DOI:	10.1002/(sici)1097-0223(199602)16:2<125::aid-pd822>3.0.co;2-s
Popis:	We report two fetuses with typical anomalies of Roberts syndrome. Prenatal diagnosis was confirmed by the characteristic disjunction of centromeres in amniocytes. We compare these cases with a child who presented with severe Roberts syndrome. We attempted to evaluate quantitatively the centromeric abnormality and the chromosome separation in the different cultures and with different methods. The variability of the clinical manifestations and cytogenetic investigations of this syndrome are reviewed.
Databáze:	OpenAIRE
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