An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities

2009 ◽  
Vol 52 (5) ◽  
pp. 358-362 ◽  
Author(s):  
Anna Bremer ◽  
Jacqueline Schoumans ◽  
Magnus Nordenskjöld ◽  
Britt-Marie Anderlid ◽  
MaiBritt Giacobini
Keyword(s):  
Developmental Delay ◽  
Heart Defects ◽  
Interstitial Deletion ◽  
Chromosome Band ◽  
Short Neck ◽  
Dysmorphic Features

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

2010 ◽  
Vol 155 (1) ◽  
pp. 203-206 ◽  
Author(s):  
Sultan Cingöz ◽  
Iben Bache ◽  
Lise Bjerglund ◽  
Hans-Hilger Ropers ◽  
Niels Tommerup ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Male Patient ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Interstitial Deletion

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

335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Gene ◽  
2012 ◽  
Vol 505 (2) ◽  
pp. 384-387 ◽  
Author(s):  
Viola Alesi ◽  
Marta Bertoli ◽  
Giuseppe Barrano ◽  
Barbara Torres ◽  
Silvia Pusceddu ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Autistic Disorder ◽  
Growth Retardation ◽  
Chromosome Band ◽  
Dysmorphic Features

scholarly journals Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Euthymia Vargiami ◽  
Athina Ververi ◽  
Hamda Al-Mutawa ◽  
Georgia Gioula ◽  
Spyridon Gerou ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Dysmorphic Features ◽  
Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

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