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22q distal duplication syndrome

✍ Scribed by Rivera, Horacio


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
66 KB
Volume
34
Category
Article
ISSN
0148-7299

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✍ Abeliovich, Dvorak ;Maor, Esther ;Bashan, Nava ;Carmi, Rivka πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 471 KB πŸ‘ 1 views

We report on three patients with duplication of distal 22s. One patient is a de novo carrier of the translocation t(21;22) (p13;qll), the other two are offspring of a translocation carrier t( 10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q)

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## Abstract Partial duplication of chromosome 3q is a well‐described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann‐de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of b