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A case of autism associated with partial tetrasomy 15

✍ Scribed by Matthew Hotopf; Patrick Bolton

Publisher
Springer US
Year
1995
Tongue
English
Weight
529 KB
Volume
25
Category
Article
ISSN
1573-3432

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Partial tetrasomy with triplication of c
Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies
✍ Harrison, Karen J.; Teshima, Ikuko E.; Silver, Meredith M.; Jay, Venita; Unger, πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 1 views

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