Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism
- 21 November 1992
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 12 (11) , 945-950
- https://doi.org/10.1002/pd.1970121114
Abstract
The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.Keywords
This publication has 9 references indexed in Scilit:
- Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsiesPrenatal Diagnosis, 1991
- Klinische Erfahrungen und Möglichkeiten der schnellen zytogenetischen Diagnostik von Spontanaborten im Routinebetrieb einer FrauenklinikGeburtshilfe und Frauenheilkunde, 1991
- Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS, amnion- and placental culturePrenatal Diagnosis, 1989
- Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA librariesHuman Genetics, 1988
- An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissuePrenatal Diagnosis, 1988
- Partial deletion of 4p in fetal cells not present in chorionic villiClinical Genetics, 1988
- Cytogenetic Variants in HoloprosencephalyAmerican Journal of Diseases of Children, 1976
- THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)Pediatrics, 1964
- Pathoarchitectonic Studies of Cerebral MalformationsJournal of Neuropathology and Experimental Neurology, 1959