Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report

2012 ◽  
Vol 41 ◽  
pp. 6-9 ◽  
Author(s):  
Ahmet Gul ◽  
Kemal Gungorduk ◽  
Isil Turan ◽  
Gokhan Yildirim ◽  
Ali Gedikbasi ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Twin Pregnancy ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals A Patient with 22q11.2 Deletion Syndrome: case report

2011 ◽  
Vol 1 (3) ◽  
pp. 151-154 ◽  
Author(s):  
Sema Kabataş Eryılmaz ◽  
Firdevs Baş ◽  
Ali Satan ◽  
Feyza Darendeliler ◽  
Rüveyde Bundak ◽  
...  
Keyword(s):  
Case Report ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: A case report

Vaccine ◽  
2014 ◽  
Vol 32 (43) ◽  
pp. 5552-5554 ◽  
Author(s):  
Mariella Valenzise ◽  
Antonio Cascio ◽  
Malgorzata Wasniewska ◽  
Giuseppina Zirilli ◽  
Maria Ausilia Catena ◽  
...  
Keyword(s):  
Case Report ◽  
22Q11.2 Deletion Syndrome ◽  
Acute Disseminated Encephalomyelitis ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome

The first experience of prenatal successful diagnosis of 22q11.2 deletion syndrome

2019 ◽  
Author(s):  
I.V. Komarova, A.A. Nikiforenko, E.F. Khmeleva et all
Keyword(s):  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
First Case ◽  
Cardiovascular Defects ◽  
Aortic Arch Interruption

Two cases of prenatal diagnosis of a deletion syndrome 22q11.2 are presented. They are includes the cardiovascular defects in combination with hypoplasia of the thymus. In first case the pregnancy was aborted due to the heart disease, adverse for life (aortic arch interruption). In second case (right aorta arch and left aberrant subclavial artery) the pregnancy was prolonged, the chromosomal pathology was diagnosed at the age of 3 months. Modern data on clinic, diagnosis and outcome of a syndrome at the fetus, children and adults are analyzed. The possibility of the aim prenatal diagnosis of syndrome on the basis of the characteristic conotruncal abnormalities in combination with hypoplasia of thymus is presented.

scholarly journals How to diagnose the 22q11.2 deletion syndrome in patients with schizophrenia: a case report

2013 ◽  
Vol 12 (1) ◽  
pp. 29 ◽  
Author(s):  
Kazutaka Ohi ◽  
Ryota Hashimoto ◽  
Hidenaga Yamamori ◽  
Yuka Yasuda ◽  
Michiko Fujimoto ◽  
...  
Keyword(s):  
Case Report ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion
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