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Journals / Journal of the Turkish-German Gynecological Association / 2010 / Cilt: 11 - Sayı: 4

Prenatal tanısı konulmuş, omfalosel ve hafif fenotipik anormalliklere sahip kısmi trizomi 3q olgusu

Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype

Deniz Cemgil ARIKAN
Gürkan KIRAN
İlker ARIKAN
Ayhan ÇOŞKUN
Gülay CEYLAN
Pages
228–232
Publication Date
2022-10-18
DOI
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AI Summary & Key Takeaways

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

We reported this partial trisomy 3q case because he had less marked malformations compared to other reported cases and also different features such as an omphalocele and hypoplastic 12th rib which have not been described previously in an isolated Trisomy 3q case with this karyotype. (J Turkish-German Gynecol Assoc 2010; 11: 228-32)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Trisomy 3q is a very rarely reported chromosomal disorder.
📊
Key Findings & Data:Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities.
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Conclusion & Impact:We reported this partial trisomy 3q case because he had less marked malformations compared to other reported cases and also different features such as an omphalocele and hypoplastic 12th rib which have not been described previously in an isolated Trisomy 3q case with this karyotype. (J Turkish-German Gynecol Assoc 2010; 11: 228-32)
🔬Design:Research Article
📍Scope:2010 Verileri
⚙️Variables:Domain Parameters

Abstract

Trisomy 3q is a very rarely reported chromosomal disorder. Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities. A 27 year-old pregnant woman was admitted to our clinic at 17 weeks of gestation. Prenatal sonography identified a fetus with an omphalocele that contained the liver and bowel , mild ventriculomegaly and polyhydramnios. Amniocentesis revealed the karyotype of 46, XY, der (3) (3qter→3q21: : 3pter→3qter). The pregnancy was subsequently terminated. Postnatally, the proband showed midfacial hypoplasia, micrognathia, hypoplastic 12th ribs, omphalocele and prominent heels. We reported this partial trisomy 3q case because he had less marked malformations compared to other reported cases and also different features such as an omphalocele and hypoplastic 12th rib which have not been described previously in an isolated Trisomy 3q case with this karyotype. (J Turkish-German Gynecol Assoc 2010; 11: 228-32)

Özet

Trizomi 3q nadir görülen bir kromozom anomalisidir. İnsan 3. kromozomunun uzun kolunun bir kısmının duplikasyonu multipl kongenital anormalliklerle birlikte olan farklı ve ciddi bir sendroma yol açar. Yirmi-yedi yaşındaki gebe kadın mevcut gebeliğinin 17. haftasında polikliniğimize başvurdu. Fetusta yapılan prenatal ultrasonografide, karaciğer ve barsak içeren omfalosel, hafif ventrikülomegali ve polihidramnios tespit edildi. Yapılan amniyosentez sonucunda karyotip 46, XY, der (3) (3qter→3q21: :3pter→3qter) geldi. Ardından tıbbi terminasyon uygulandı. Terminasyon sonrası fetusta; midfasiyal hipoplazi, mikrognati, hipoplastik 12. kosta, omfalosel ve çıkıntılı topuklar tespit edildi. Biz bu olguyu, daha önce yayınlanmış izole Trizomi 3q olgularına göre daha hafif malformasyonlar içermesi ve ayrıca omfalosel ve hipoplastik 12. kosta gibi onlarda bulunmayan ek anomalilere sahip olması nedeniyle yayınladık. (J Turkish-German Gynecol Assoc 2010; 11: 228-32)

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Cite This Article

ARIKAN, D. C., KIRAN, G., ARIKAN, İ., ÇOŞKUN, A., CEYLAN, G. (2022). Prenatal tanısı konulmuş, omfalosel ve hafif fenotipik anormalliklere sahip kısmi trizomi 3q olgusu. Journal of the Turkish-German Gynecological Association, Cilt: 11 - Sayı: 4, 228–232. https://ajindex.com/articles/567764

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