Title: Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy
Authors: Witters, Ingrid ×
Van Buggenhout, Griet
Moerman, Philippe
Fryns, Jean-Pierre #
Issue Date: Mar-1999
Series Title: Prenatal Diagnosisvol:18 issue:12 pages:1304-7
Abstract: We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

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