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Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years

✍ Scribed by M. Renedo; M. Robledo; E. Arranz; F. Infantes; A. Roman; J. Garcia-Yebenes; J. Benitez


Book ID
114136117
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
419 KB
Volume
95
Category
Article
ISSN
0165-4608

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A 5-year-old girl with interstitial dele
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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