[Fetal cyclopia with deletion 46,XX,del (7) (q32-->qter), prenatal diagnosis and genetic counseling].
A pregnancy at 19./20. weeks of gestation with signs of cyclopia by ultrasonography is described. A long arm deletion of chromosome 7 was found by prenatal cytogenetic investigation. Prenatal diagnosis and genetic counseling are discussed.
Hauschild
R
R
Institut für Anthropologie und Humangenetik der Friedrich-Schiller-Universität Jena.
Beensen
V
V
Schulze
E
E
Gross
W
W
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal
Fetale Cyclopie mit Deletion 46,XX,del (7) (q32-->qter), pränatale Diagnostik und genetische Beratung.