Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.
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.
Lukusa
T
T
Center for Human Genetics, University Hospital of Leuven, Belgium.
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*