A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

2009 ◽  
Vol 149A (8) ◽  
pp. 1818-1822 ◽  
Author(s):  
Keiko Shimojima ◽  
Kayoko Saito ◽  
Toshiyuki Yamamoto
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Interstitial Deletion ◽  
Dysmorphic Features ◽  
Muscle Hypotonia

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

2019 ◽  
Vol 60 (2) ◽  
pp. 73-74
Author(s):  
Makiko Tominaga ◽  
Toshiyuki Saito ◽  
Mitsuo Masuno ◽  
You Umeda ◽  
Kenji Kurosawa
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Dysmorphic Features

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

2018 ◽  
Vol 176 (12) ◽  
pp. 2548-2553 ◽  
Author(s):  
Caleb P. Bupp ◽  
Chad R. Schultz ◽  
Katie L. Uhl ◽  
Surender Rajasekaran ◽  
André S. Bachmann
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Pathogenic Variant ◽  
Dysmorphic Features

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2012 ◽  
Vol 158A (4) ◽  
pp. 882-887 ◽  
Author(s):  
Antonella Fabretto ◽  
Maria Santa Rocca ◽  
Maria Dolores Perrone ◽  
Aldo Skabar ◽  
Vanna Pecile ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Speech Delay ◽  
Dysmorphic Features

scholarly journals Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

2008 ◽  
Vol 17 (5) ◽  
pp. 573-581 ◽  
Author(s):  
Sandesh Chakravarthy Sreenath Nagamani ◽  
Ayelet Erez ◽  
Christine Eng ◽  
Zhishuo Ou ◽  
Craig Chinault ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Developmental Delay ◽  
Interstitial Deletion ◽  
Microdeletion Syndrome ◽  
Dysmorphic Features
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