A rare chromosomal disorder in a newborn: Trisomy 3q
Yazarlar (5)
Dilek Kahvecioglu Ankara Numune Education And Research Hospital, Türkiye
Hatice Tatar-Aksoy Ankara Numune Education And Research Hospital, Türkiye
Doç. Dr. Eren YILDIZ Ankara Numune Education And Research Hospital, Türkiye
Abdullatif Bakir Ankara Numune Education And Research Hospital, Türkiye
Bulent Alioglu
Ankara Numune Education And Research Hospital, Türkiye
Ankara Numune Education And Research Hospital, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Turkish Journal of Pediatrics (Q4) | ||
| Dergi ISSN | 0041-4301 Dergi Bilgileri (2019) | ||
| Makale Dili | İngilizce | Basım Tarihi | 03-2019 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 25-04-2019 |
| Cilt / Sayı / Sayfa | 61 / 2 / 271–274 | DOI | 10.24953/turkjped.2019.02.018 |
| Makale Linki | https://turkjpediatr.org/article/view/685 | ||
| UAK Araştırma Alanları |
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| Özet |
| Trisomy 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities. We hereby present a patient with chromosomal karyotype 46, XY, dup (3)(q23-29), which can be classified as pure 3q duplication and has thin sclera and iris dysgenesis, anterior and posterior segment dysgenesis besides the previously identified specific facial features. To the best of our knowledge only 12 cases have been reported with pure duplication in the literature. Our case is the 13th one reported and has noval findings concerning eye involvement. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of genes which are responsible for eye development in this chromosomal region. |
| Anahtar Kelimeler |
| Cornelia de Lange | Iris dysgenesis | Trisomy 3q |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları |