A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME

Balci S., Altugan F. S., Alehan D., Aypar E., Baltaci V.

GENETIC COUNSELING, vol.20, no.4, pp.373-377, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 4
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.373-377
  • Hacettepe University Affiliated: Yes

Abstract

A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH Studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.