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Prenatal diagnosis of Roberts syndrome: two new cases.
Prenat Diagn. 1996 Feb; 16(2):125-30.PD

Abstract

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.

Authors+Show Affiliations

Laboratoire d'Histo-Embryologie, Cytogénétique, Biologie de la Reproduction, C.H.U. Hôpital Avicenne, Bobigny, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8650122

Citation

Benzacken, B, et al. "Prenatal Diagnosis of Roberts Syndrome: Two New Cases." Prenatal Diagnosis, vol. 16, no. 2, 1996, pp. 125-30.
Benzacken B, Savary JB, Manouvrier S, et al. Prenatal diagnosis of Roberts syndrome: two new cases. Prenat Diagn. 1996;16(2):125-30.
Benzacken, B., Savary, J. B., Manouvrier, S., Bucourt, M., & Gonzales, J. (1996). Prenatal diagnosis of Roberts syndrome: two new cases. Prenatal Diagnosis, 16(2), 125-30.
Benzacken B, et al. Prenatal Diagnosis of Roberts Syndrome: Two New Cases. Prenat Diagn. 1996;16(2):125-30. PubMed PMID: 8650122.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of Roberts syndrome: two new cases. AU - Benzacken,B, AU - Savary,J B, AU - Manouvrier,S, AU - Bucourt,M, AU - Gonzales,J, PY - 1996/2/1/pubmed PY - 2000/6/20/medline PY - 1996/2/1/entrez SP - 125 EP - 30 JF - Prenatal diagnosis JO - Prenat Diagn VL - 16 IS - 2 N2 - 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. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/8650122/Prenatal_diagnosis_of_Roberts_syndrome:_two_new_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1996&volume=16&issue=2&spage=125 DB - PRIME DP - Unbound Medicine ER -