Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype.
In this report we present a female fetus with hemilobar holoprosencephaly and 46,XX,der(7)t(7;8)(q36.1;p12) mat karyotype. The holoprosencephaly-sequence is apparently related with the distal 7(q36.1----qter) deficiency.
Kleczkowska
A
A
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Moerman
P
P
Vandenberghe
K
K
Van den Berghe
H
H
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014463:Ultrasonography