A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

2018 ◽  
Vol 27 (3) ◽  
pp. 101-104
Author(s):  
Akif Ayaz ◽  
Ali Topak ◽  
Sinem Yalcintepe ◽  
Tamer Celik ◽  
Kanay Yararbas ◽  
...  
Keyword(s):  
Isochromosome 18P ◽  
2Q13 Deletion

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

2010 ◽  
Vol 155 (1) ◽  
pp. 225-227
Author(s):  
Giuseppe Maria Maruotti ◽  
Floriana Fabbrini ◽  
Raffaele Napolitano ◽  
Rita Genesio ◽  
Anna Conti ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
Isochromosome 18P

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Gene ◽  
2015 ◽  
Vol 559 (1) ◽  
pp. 94-98 ◽  
Author(s):  
Sushil Kumar Jaiswal ◽  
Ashok Kumar ◽  
Akhtar Ali ◽  
Amit Kumar Rai
Keyword(s):  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Isochromosome 18P

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

2008 ◽  
Vol 45 (6) ◽  
pp. 301-304 ◽  
Author(s):  
Elke Back ◽  
Roland Toder ◽  
Ion Voiculescu ◽  
Anke Wildberg ◽  
Werner Schempp
Keyword(s):  
Chromosome Painting ◽  
De Novo ◽  
Isochromosome 18P

scholarly journals 2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype

2021 ◽  
Author(s):  
Ettore Piro ◽  
Gregorio Serra ◽  
Mario Giuffrè ◽  
Mandy Schierz ◽  
Giovanni Corsello
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Microdeletion Syndrome ◽  
2Q13 Deletion ◽  
Syndrome Report

In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.

scholarly journals Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency

2013 ◽  
Vol 2013 (feb25 1) ◽  
pp. bcr2013008684-bcr2013008684 ◽  
Author(s):  
D. Hoang ◽  
G. R. Sue ◽  
F. Xu ◽  
P. Li ◽  
D. Narayan
Keyword(s):  
Gastrointestinal Tumours ◽  
2Q13 Deletion

Congenital heart defects in the recurrent 2q13 deletion syndrome

2021 ◽  
pp. 104381
Author(s):  
M.C. Digilio ◽  
M.L. Dentici ◽  
S. Loddo ◽  
L. Laino ◽  
G. Calcagni ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Deletion Syndrome ◽  
2Q13 Deletion
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