Title: Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication
Authors: Lukusa, T ×
Fryns, Jean-Pierre #
Issue Date: Dec-1998
Series Title: American Journal of Medical Genetics vol:80 issue:5 pages:454-8
Abstract: We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2-->q22.1 reported. The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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