A rare chromosomal disorder in a newborn: Trisomy 3q
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 dysgenesi...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2019-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/685 |
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| author | Dilek Kahvecioğlu Hatice Tatar-Aksoy Eren Yıldız Abdullatif Bakır Bülent Alioğlu |
| author_facet | Dilek Kahvecioğlu Hatice Tatar-Aksoy Eren Yıldız Abdullatif Bakır Bülent Alioğlu |
| author_sort | Dilek Kahvecioğlu |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-ff6e899af6874eeb9fc7e30d061d5be6 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-ff6e899af6874eeb9fc7e30d061d5be62025-08-20T02:01:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-04-0161210.24953/turkjped.2019.02.018A rare chromosomal disorder in a newborn: Trisomy 3qDilek Kahvecioğlu0Hatice Tatar-Aksoy1Eren Yıldız2Abdullatif Bakır3Bülent Alioğlu4Division of Neonatology, Ankara Training and Research Hospital, Ankara, Turkey.Division of Neonatology, Ankara Training and Research Hospital, Ankara, Turkey.Departments of Pediatrics, Ankara Training and Research Hospital, Ankara, Turkey.Departments of Genetics, Ankara Training and Research Hospital, Ankara, Turkey.Departments of Pediatric Hematology, Ankara Training and Research Hospital, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/685Cornelia de Langeiris dysgenesistrisomy 3q |
| spellingShingle | Dilek Kahvecioğlu Hatice Tatar-Aksoy Eren Yıldız Abdullatif Bakır Bülent Alioğlu A rare chromosomal disorder in a newborn: Trisomy 3q The Turkish Journal of Pediatrics Cornelia de Lange iris dysgenesis trisomy 3q |
| title | A rare chromosomal disorder in a newborn: Trisomy 3q |
| title_full | A rare chromosomal disorder in a newborn: Trisomy 3q |
| title_fullStr | A rare chromosomal disorder in a newborn: Trisomy 3q |
| title_full_unstemmed | A rare chromosomal disorder in a newborn: Trisomy 3q |
| title_short | A rare chromosomal disorder in a newborn: Trisomy 3q |
| title_sort | rare chromosomal disorder in a newborn trisomy 3q |
| topic | Cornelia de Lange iris dysgenesis trisomy 3q |
| url | https://turkjpediatr.org/article/view/685 |
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