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Title: Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient
Authors: Fryns, Jean-Pierre ×
Hendrickx, G #
Issue Date: 1996
Publisher: Elsevier Science
Series Title: Annales de Génétique vol:39 issue:1 pages:51-3
Abstract: We report a de novo autosomal reciprocal translocation t(9;13)(q32;q22) in a mildly to moderately mentally retarded boy. Clinically he presented the typical signs and symptoms of a recently delineated malformative syndrome characterized by trigonocephaly, shallow orbits, ptosis, mental and growth retardation.
ISSN: 0003-3995
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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