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2008-08-27-11 Deletion 22q11.2 syndrome © Cuillier
Deletion 22q11.2 syndrome


Fabrice Cuillier, MD*; Alice Bertha**; J. L. Dalessandri, MD***.

*     Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Réunion, France;
**   Student. Arizona State University. University Drive and Mill Avenue Tempe, Arizona 85281, USA;
***  Department of Neonatology, Félix Guyon’ Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

A 24-year-old woman (G1,P0), with negative family history, was referred to our antenatal unit at 26 weeks due to a congenital cardiac anomaly of the fetus. Our sonographic examination revealed the tetralogy of Fallot and hypoplastic cerebellar vermis making the size of the cisterna magna larger.

Karyotyping found 46, XX karyotype with 22q11.2 deletion.

A repeated scan was performed at 27 weeks and the anomalies were confirmed. The parents opted for the continuation of the pregnancy and after delivery the findings were confirmed.

Images 1, 2: Four-chamber view of the heart showing the ventricular septal defect.


Images 3, 4: The images show color Doppler scans of the overriding aorta (AO), which is clearly larger than the pulmonary artery (AP).


Images 5, 6:  The images show large overriding aorta (AO) and thin pulmonary artery (AP).


Images 7, 8, 9, 10: Transverse scans of the posterior cranial fossa show hypoplastic cerebellar vermis with the enlargement of the cerebellomedullary cistern.




Images 11, 12: MRI images confirming the cerebellar vermix hypoplasia.






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