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Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1

✍ Scribed by Cecilia Gunnarsson; Cathrine Foyn Bruun

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

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An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short upslanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronc