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Deletion mapping by FISH with BACs in patients with partial monosomy 22q13

✍ Scribed by K. Schröder; Simone Schuffenhauer; Heide Seidel; Oliver Bartsch; Nikolaus Blin; Georg Klaus Hinkel; Holger Schmitt

Book ID
106136953
Publisher
Springer
Year
1998
Tongue
English
Weight
118 KB
Volume
102
Category
Article
ISSN
0340-6717

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Mild phenotype in two unrelated patients
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies
✍ 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