Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation.
This report presents a case of cyclopia attributable to an unbalanced karyotype in a family with a balanced, reciprocal 3/7 translocation. This case was the fifth recorded in three generations of this family. From this report it is possible that the simultaneous action of partial trisomy 3p and partial monosomy 7q may be one cause of holoprosencephaly.
Bürrig
K F
KF
Department of Pathology, Heinrich Heine University, Düsseldorf, West Germany.
Gebauer
J
J
Terinde
R
R
Pfitzer
P
P
D000015:Abnormalities, Multiple / Q000235:genetics; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic / Q000235:genetics*