Prenatal Diagnosis Of Catch22 Syndrome

Authors

  • Rana Karayalçın Zekai Tahir Burak Women’s Health and Education Hospital, Ankara
  • Serdar Ceylaner Intergen Genetics Centre, Ankara
  • Feride İffet Şahin Baskent University Faculty of Medicine Department of Medical Genetics, Ankara
  • Şebnem Özyer Zekai Tahir Burak Women’s Health and Education Hospital, Ankara
  • Melike Doğanay Zekai Tahir Burak Women’s Health and Education Hospital, Ankara
  • Nuri Danışman Zekai Tahir Burak Women’s Health and Education Hospital, Ankara

Keywords:

Catch 22 syndrome, Prenatal diagnosis

Abstract

Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome (CTAF), Caylor Cardiofacial Syndrome or Autosomal Dominant Opitz G/BBB Syndrome. CATCH22 is the summarizing name of all the syndromes caused by 22q11 deletion. We present a prenatally diagnosed case at 19 th week of gestation with tetralogy of Fallot. Amniocyte tissue cultures resulted in normal karyotype at 550 band level. 22q11.2 deletion was detected by using DiGeorge/VCFS TUPLE1 (Cytocell) FISH probe. 22q11 testing is necessary in case of detection of conotruncal heart anomalies in pregnancies. Chromosome analysis is not enough in many cases and FISH testing combined with chromosome analysis is an effective way of diagnosing affected cases.

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Published

2010-08-10

How to Cite

1.
Karayalçın R, Ceylaner S, Şahin F İffet, Özyer Şebnem, Doğanay M, Danışman N. Prenatal Diagnosis Of Catch22 Syndrome. Gynecol Obstet Reprod Med [Internet]. 2010Aug.10 [cited 2022May26];16(2):117-9. Available from: https://gorm.com.tr/index.php/GORM/article/view/352

Issue

Section

Case Reports

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