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Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype

✍ Scribed by Pia Pohjola; Nicole de Leeuw; Maila Penttinen; Helena Kääriäinen


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
145 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Mild phenotype in two unrelated patients
✍ Ehling, Daniela ;Kennerknecht, Ingo ;Junge, Annelore ;Prager, Bettina ;Exeler, R 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 288 KB 👁 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