Holoprosencephaly in a fetus with a 46,XX,der(7), t(7;8)(q36.1;p12) mat karyotype
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Updated: Aug 8, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A Kleczkowska1, J P Fryns, P Moerman
1Centre for Human Genetics, University of Leuven, Belgium.
Abstract:
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.
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