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Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

โœ Scribed by Mariluce Riegel; Alessandra Baumer; Mauricette Jamar; Kathy Delbecque; Christian Herens; Alain Verloes; Albert Schinzel


Publisher
Springer
Year
2001
Tongue
English
Weight
104 KB
Volume
109
Category
Article
ISSN
0340-6717

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Patient with terminal duplication 3q and
โœ Angle, Brad ;Yen, Frank ;Hersh, Joseph H. ;Gowans, Gordon ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 162 KB ๐Ÿ‘ 2 views

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