Related Experiment Videos
Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)
American Journal of Medical Genetics
|June 1, 1986
Insights
A fetus with cyclopia resulted from an unbalanced translocation of chromosomes 7 and 18. This genetic abnormality, characterized by [46XX,del 7, rcp(7;18)(q34;21)], may explain a prior sibling
Area of Science:
- Genetics
- Developmental Biology
- Medical Science
Background:
- Cyclopia is a rare congenital disorder characterized by a single eye socket.
- Holoprosencephaly is a spectrum of brain malformations.
- Chromosomal abnormalities are a known cause of congenital anomalies.
Abstract:
One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX,del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprosencephaly, but no medical records were available to substantiate this description.