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7q11.23 Microduplication: a recognizable phenotype
Author(s) -
Dixit A,
McKee S,
Mansour S,
Mehta SG,
Tanteles GA,
Anastasiadou V,
Patsalis PC,
Martin K,
McCullough S,
Suri M,
Sarkar A
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01862.x
Subject(s) - phenotype , facial dysmorphism , genetics , williams syndrome , biology , medicine , gene , neuroscience , cognition
Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a recognizable phenotype. Williams‐Beuren syndrome is a well‐known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams‐Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype.