Prenatal diagnosis of Roberts syndrome: two new cases.
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.
Benzacken
B
B
Laboratoire d'Histo-Embryologie, Cytogénétique, Biologie de la Reproduction, C.H.U. Hôpital Avicenne, Bobigny, France.
Savary
J B
JB
Manouvrier
S
S
Bucourt
M
M
Gonzales
J
J
D000328:Adult; D000649:Amniocentesis; D002478:Cells, Cultured; D002503:Centromere; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D004480:Ectromelia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D013577:Syndrome