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Title: Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion
Authors: Lukusa-Tshilobo, Prosper ×
Devriendt, Koenraad
Holvoet, M
Fryns, Jean-Pierre #
Issue Date: Dec-1998
Series Title: Clinical Genetics vol:54 issue:3 pages:224-30
Abstract: We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25-->qter monosomy.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Laboratory for Genetics of Human Development
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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