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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2010 / Cilt: 16 - Sayı: 2

Catch sendromunun prenatal tanısı

Prenatal diagnosis of catch22 syndrome

Rana KARAYALÇIN
Serdar CEYLANER
FERİDE İFFET ŞAHİN
ŞEBNEM ÖZYER
MELİKE DOĞANAY
Nuri DANIŞMAN
Pages
117–119
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Chromosome analysis is not enough in many cases and FISH testing combined with chromosome analysis is an effective way of diagnosing affected cases.

📌 3 Key Takeaways

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Objective & Hypothesis:Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies.
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Key Findings & Data:CATCH22 is the summarizing name of all the syndromes caused by 22q11 deletion.
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Conclusion & Impact:Chromosome analysis is not enough in many cases and FISH testing combined with chromosome analysis is an effective way of diagnosing affected cases.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

Fromozom 22 (22q11) uzun kkolunda delesyonlar birçok kon jenital kalp hastalıklarında ve konjenital anomalilerde görülür. Birçok vakada hastalarda DiGeorge Sendromunda, Velocar diofacial Sendromda (VCFS), Shprintzen Sendromda, Co notruncal Anomali Yüz Sendromunda (CTAF), Caylor Car diofacial Sendromda veya Autosomal Dominant Opitz G/BBB Syndromunda. Görülen belirtiler olur. CATCH 22 22q11 deles yonuna bağlı tüm sendrom isimlerini özetlemektedir. Biz 19. haftada Fallot tetralojisi olan bir vakada prenatal tanı konan ol guyu rapor ettik. 55 Band seviyesinde amniyotik sıvı doku kül türlerinde normal karyotip olarak sonuçlandı. DiGeorge/VCFS TUPLE1 (Cytocell) FISH probu kullanıldığında 22q11.2 deles yonu tesbit edildi. Kolotrunkal kalp anomalilerinde 22q11 testi yapmak gereklidir. Bir çok vakada kromozom analizi yeterli de ğildir ve buna ek olarak etkilenmiş vakaları yakalamak için FISH testi gereklidir.

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Cite This Article

KARAYALÇIN, R., CEYLANER, S., ŞAHİN, F. İ., ÖZYER, Ş., DOĞANAY, M., DANIŞMAN, N. (2010). Catch sendromunun prenatal tanısı. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 16 - Sayı: 2, 117–119. https://ajindex.com/articles/227013

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