A rare chromosomal disorder in a newborn: Trisomy 3q
Yıl: 2019 Cilt: 61 Sayı: 2 Sayfa Aralığı: 271 - 274 Metin Dili: İngilizce DOI: 10.24953/turkjped.2019.02.018 İndeks Tarihi: 06-08-2020
A rare chromosomal disorder in a newborn: Trisomy 3q
Öz: Trisomy 3q is a rare chromosomal disorder that leads to multiple congenitalabnormalities. We hereby present a patient with chromosomal karyotype 46,XY, dup (3)(q23-29), which can be classified as pure 3q duplication and hasthin sclera and iris dysgenesis, anterior and posterior segment dysgenesisbesides the previously identified specific facial features. To the best of ourknowledge only 12 cases have been reported with pure duplication in theliterature. Our case is the 13th one reported and has noval findings concerningeye involvement. The ocular manifestations of the 3q duplication syndromeprovide additional evidence of the involvement of genes which are responsiblefor eye development in this chromosomal region.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Kahvecioğlu D, AKSOY H, YILDIZ E, BAKIR A, Alioglu B (2019). A rare chromosomal disorder in a newborn: Trisomy 3q. , 271 - 274. 10.24953/turkjped.2019.02.018 |
| Chicago | Kahvecioğlu Dilek,AKSOY Hatice Tatar,YILDIZ EREN,BAKIR Abdullatif,Alioglu Bulent A rare chromosomal disorder in a newborn: Trisomy 3q. (2019): 271 - 274. 10.24953/turkjped.2019.02.018 |
| MLA | Kahvecioğlu Dilek,AKSOY Hatice Tatar,YILDIZ EREN,BAKIR Abdullatif,Alioglu Bulent A rare chromosomal disorder in a newborn: Trisomy 3q. , 2019, ss.271 - 274. 10.24953/turkjped.2019.02.018 |
| AMA | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B A rare chromosomal disorder in a newborn: Trisomy 3q. . 2019; 271 - 274. 10.24953/turkjped.2019.02.018 |
| Vancouver | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B A rare chromosomal disorder in a newborn: Trisomy 3q. . 2019; 271 - 274. 10.24953/turkjped.2019.02.018 |
| IEEE | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B "A rare chromosomal disorder in a newborn: Trisomy 3q." , ss.271 - 274, 2019. 10.24953/turkjped.2019.02.018 |
| ISNAD | Kahvecioğlu, Dilek vd. "A rare chromosomal disorder in a newborn: Trisomy 3q". (2019), 271-274. https://doi.org/10.24953/turkjped.2019.02.018 |
| APA | Kahvecioğlu D, AKSOY H, YILDIZ E, BAKIR A, Alioglu B (2019). A rare chromosomal disorder in a newborn: Trisomy 3q. Turkish Journal of Pediatrics, 61(2), 271 - 274. 10.24953/turkjped.2019.02.018 |
| Chicago | Kahvecioğlu Dilek,AKSOY Hatice Tatar,YILDIZ EREN,BAKIR Abdullatif,Alioglu Bulent A rare chromosomal disorder in a newborn: Trisomy 3q. Turkish Journal of Pediatrics 61, no.2 (2019): 271 - 274. 10.24953/turkjped.2019.02.018 |
| MLA | Kahvecioğlu Dilek,AKSOY Hatice Tatar,YILDIZ EREN,BAKIR Abdullatif,Alioglu Bulent A rare chromosomal disorder in a newborn: Trisomy 3q. Turkish Journal of Pediatrics, vol.61, no.2, 2019, ss.271 - 274. 10.24953/turkjped.2019.02.018 |
| AMA | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B A rare chromosomal disorder in a newborn: Trisomy 3q. Turkish Journal of Pediatrics. 2019; 61(2): 271 - 274. 10.24953/turkjped.2019.02.018 |
| Vancouver | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B A rare chromosomal disorder in a newborn: Trisomy 3q. Turkish Journal of Pediatrics. 2019; 61(2): 271 - 274. 10.24953/turkjped.2019.02.018 |
| IEEE | Kahvecioğlu D,AKSOY H,YILDIZ E,BAKIR A,Alioglu B "A rare chromosomal disorder in a newborn: Trisomy 3q." Turkish Journal of Pediatrics, 61, ss.271 - 274, 2019. 10.24953/turkjped.2019.02.018 |
| ISNAD | Kahvecioğlu, Dilek vd. "A rare chromosomal disorder in a newborn: Trisomy 3q". Turkish Journal of Pediatrics 61/2 (2019), 271-274. https://doi.org/10.24953/turkjped.2019.02.018 |
