scholarly journals Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

2011 ◽  
Vol 4 (1) ◽  
pp. 17 ◽  
Author(s):  
Danijela Krgovic ◽  
Natasa Marcun Varda ◽  
Andreja Zagorac ◽  
Nadja Kokalj-Vokac
2009 ◽  
Vol 52 (1) ◽  
pp. 49-52 ◽  
Author(s):  
James Lespinasse ◽  
Stefania Gimelli ◽  
Frédérique Béna ◽  
Stylianos E. Antonarakis ◽  
François Ansermet ◽  
...  

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.


2020 ◽  
Vol 6 (8) ◽  
pp. 63905-63914
Author(s):  
Pedro Teixeira Meireles ◽  
Mateus Borges Soares ◽  
Diego Rodrigues Naves Barbosa Lacerda ◽  
Bruno Belmonte Martineli Gomes ◽  
Eduardo Elias Vieira de Carvalho ◽  
...  

2014 ◽  
Vol 15 ◽  
pp. 1
Author(s):  
Serkan Karadeniz ◽  
Mutlu Karakus ◽  
Busra Duran ◽  
Canan Ince ◽  
Sema Kandil

2007 ◽  
Vol 146A (1) ◽  
pp. 93-96 ◽  
Author(s):  
Caroline Schluth ◽  
Roselyne Gesny ◽  
Guntram Borck ◽  
Richard Redon ◽  
Véronique Abadie ◽  
...  

2008 ◽  
Vol 51 (6) ◽  
pp. 639-645 ◽  
Author(s):  
Sergio Tempesta ◽  
Danila Sollima ◽  
Sara Ghezzo ◽  
Valeria Politi ◽  
Barbara Sinigaglia ◽  
...  

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