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Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

✍ Scribed by Kavamura, M.I. ;Zollino, M. ;Lecce, R. ;Murdolo, M. ;Brunoni, D. ;Alchorne, M.M.A. ;Opitz, J.M. ;Neri, G.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
50 KB
Volume
119A
Category
Article
ISSN
0148-7299

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Mild phenotype in two unrelated patients
✍ Ehling, Daniela ;Kennerknecht, Ingo ;Junge, Annelore ;Prager, Bettina ;Exeler, R πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 288 KB πŸ‘ 1 views

## Abstract We describe two unrelated patients with cytogenetically visible deletions of 21q22.2‐q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward‐slanting palpebral fissures, depressed nasal bridge, small nose wi