Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2

2007 ◽  
Vol 303 (1-2) ◽  
pp. 9-17 ◽  
Author(s):  
Paula Sandrin-Garcia ◽  
Dagma V. M. Abramides ◽  
Lúcia R. Martelli ◽  
Ester S. Ramos ◽  
Antônio Richieri-Costa ◽  
...  
Keyword(s):  
Velocardiofacial Syndrome ◽  
Deletion Size ◽  
Phenotypic Spectrum ◽  
Chromosome 22Q11.2

Association of Anterior Glottic Webs with Velocardiofacial Syndrome (Chromosome 22q11.2 Deletion)

2004 ◽  
Vol 130 (4) ◽  
pp. 415-417 ◽  
Author(s):  
R. Christopher Miyamoto ◽  
Robin T. Cotton ◽  
Alan F. Rope ◽  
Robert J. Hopkin ◽  
Aliza P. Cohen ◽  
...  
Keyword(s):  
Velocardiofacial Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2

scholarly journals Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Sarah L. Pachtman ◽  
Kathy Deng ◽  
Deepak Nanda
Keyword(s):  
Postpartum Hemorrhage ◽  
Wide Spectrum ◽  
Significant Risk ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Significant Risk Factor ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome

Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant risk factor for life-threatening postpartum hemorrhage. We report a case of postpartum hemorrhage in a woman with 22q11.2 deletion syndrome causing severe macrothrombocytopenia.

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