A case with deletion 13q syndrome that born from mother with high risk at 2.trimestr screening test

Öz

Objective: Chromosome disorders, occurs depending on numerical or structural abnormalities of chromosomes. 13q deletion syndrome is a chromosomal disorder characterized by congenital malformations and mental retardation. At the same time is also known as monosomy 13q syndrome. Triple test is a screening test that recommended to determine chromosomal disorders, some above-average risk for pregnant women at 15-20 weeks of gestation. We report this case because of it is rarely seen. Case: In this article, we report a case with deletion 13q syndrome that arise from mother with high risk at 2. trimester screening test. Result: 2. trimester screening tests, and over 2.5 MoM P-hCG levels may be stimulating for rare chromosomal anomalies is argued by some researchers. Similar cases that not have structural anomalies at ultrasound could be overlooked easily.

Anahtar Kelimeler

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2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu

Öz

Giriş ve Amaç: Kromozom hastalıkları, kromozomların sayısal yada yapısal anomalilerine bağlı olarak ortaya çıkar. 13q delesyon sendromu konjenital malformasyonlar ve zeka geriliği ile karakterize bir kromozomal bozukluktur. Aynı zamanda monozomi 13q sendromu olarak da bilinir. Üçlü test, gebeliğin 15-20 haftaları arasında bazı kromozomal hastalıklar için ortalamanın üzerinde risk taşıyan gebeleri saptamak amacıyla önerilen bir tarama testidir. Nadir bir olgu olması nedeniyle bu vakayı sunmaya değer bulduk. Olgu: Bu yazıda 2. Trimester testi yüksek riskli olarak bulunan bir anneden doğan 13q delesyonlu bir olgu sunulmuştur. Sonuç: 2. trimester tarama testleri ve >2.5 MoM değerinde P-HCG değerleri toplumda ender olarak görülen kromozomal anomaliler için de uyarıcı olabileceği bazı araştırıcılar tarafından savunulmaktadır. Ultrasonografikyapısal anomalisi olmayan benzer olgular rahatlıkla gözden kaçabilmektedir.

Anahtar Kelimeler

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Kaynakça

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