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Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5

✍ Scribed by Taylor, M. J. ;Josifek, K. ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
541 KB
Volume
9
Category
Article
ISSN
0148-7299

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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