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Syndrome of facial, oral, and digital anomalies due to 7q21.2?q22.1 duplication

✍ Scribed by Lukusa, T.; Fryns, J.-P.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 31 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<454::aid-ajmg4>3.0.co;2-o

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✦ Synopsis

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.

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