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P5.14 Challenges in diagnosis and management of a patient with severe congenital myasthenic syndrome mutated in CHRNE

✍ Scribed by J. Linzoain; D. Avila-Smirnov; N. Essid; R. Rubinzstajn; V. Bigué; F. Renault; G. Bassez; D. Sternberg; B. Estournet; S. Quijano-Roy


Book ID
116794856
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
57 KB
Volume
21
Category
Article
ISSN
0960-8966

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We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5)(pter→p14::p14→p15.33::p15.33→ qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe