Dergiler / Turkish Journal of Pediatrics / 2015 / Cilt: 57 - Sayı: 2

A newborn with trisomy 13 presenting with cloacal exstrophy

Sayfa
198–201
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Herein, a newborn with trisomy 13 syndrome having multiple congenital anomalies, including cloacal exstrophy, is presented, and the importance of structural anomalies of the neutrophilic leukocytes on a blood smear in supporting diagnosis of trisomy 13 is discussed.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Trisomy 13 syndrome is a rare disorder that carries a high mortality rate due to abnormal prenatal development resulting in serious birth defects.
📊
Temel Bulgular & Veri:Although genitourinary malformations are commonly seen in trisomy 13 syndrome, to our knowledge, the association of cloacal exstrophy with trisomy 13 has been extremely rarely reported.
💡
Sonuç & Katkı:Herein, a newborn with trisomy 13 syndrome having multiple congenital anomalies, including cloacal exstrophy, is presented, and the importance of structural anomalies of the neutrophilic leukocytes on a blood smear in supporting diagnosis of trisomy 13 is discussed.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Trisomy 13 syndrome is a rare disorder that carries a high mortality rate due to abnormal prenatal development resulting in serious birth defects. Although genitourinary malformations are commonly seen in trisomy 13 syndrome, to our knowledge, the association of cloacal exstrophy with trisomy 13 has been extremely rarely reported. Herein, a newborn with trisomy 13 syndrome having multiple congenital anomalies, including cloacal exstrophy, is presented, and the importance of structural anomalies of the neutrophilic leukocytes on a blood smear in supporting diagnosis of trisomy 13 is discussed.

🔖

Bu Makaleye Atıf Yap

KADER, Ş., MUTLU, M., SARIAYDIN, M., ASLAN, Y., ERDURAN, E., CEBİ, A. H. (2015). A newborn with trisomy 13 presenting with cloacal exstrophy. Turkish Journal of Pediatrics, Cilt: 57 - Sayı: 2, 198–201. https://ajindex.com/articles/412319

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (16)

  1. Caba L, Rusu C, Butnariu L, et al. Phenotypic variability in Patau syndrome. Rev Med Chir Soc Med Nat Iasi 2013; 117: 321-327
  2. Carey JC. Trisomy 18 and trisomy 13 syndromes. In: Cassidy SB, Allanson JE (eds). Management of Genetic Syndromes (3rd ed). New York: Wiley-Liss; 2010: 808–823
  3. Huehns ER, Lutzner M, Hecht F. Nuclear abnormalities of the neutrophils in D1 (13-15)-trisomy syndrome. Lancet 1964; 1: 589-590
  4. Powars D, Rohde R, Graves D. Foetal haemoglobin and neutrophil anomaly in the D1-trisomy syndrome. Lancet 1964; 1: 1363-1364
  5. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extra autosome. Lancet 1960; 1: 790-793
  6. Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Arch Dis Child 1994; 71: 343-345
  7. Hall HE, Chan ER, Collins A, et al. The origin of trisomy 13. Am J Med Genet A 2007; 143A: 2242- 2248
  8. Magenis RE, Hecht F, Milham S Jr. Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival. J Pediatr 1968; 73: 222-228
  9. Schemmer G, Wapner RJ, Johnson A, Schemmer M, Norton HJ, Anderson WE. First-trimester growth patterns of aneuploid fetuses. Prenat Diagn 1997; 17: 155-159
  10. Lehman CD, Nyberg DA, Winter TC 3rd, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal US findings in a review of 33 cases. Radiology 1995; 194: 217-222
  11. Watson WJ, Miller RC, Wax JR, Hansen WF, Yamamura Y, Polzin WJ. Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy. J Ultrasound Med 2007; 26: 1209-1214
  12. Griffith CB, Vance GH, Weaver DD. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Am J Med Genet A 2009; 149A: 1346-1358
  13. Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome–review of 5 cases. Maedica (Buchar) 2010; 5: 178-185
  14. Polli JB, Groff Dde P, Petry P, et al. Trisomy 13 (Patau syndrome) and congenital heart defects. Am J Med Genet A 2014; 164A: 272-275
  15. Walzer S, Gerald PS, Breau G, O’Neill D, Diamond LK. Hematologic changes in the D1 trisomy syndrome. Pediatrics 1966; 38: 419-429
  16. Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A 2011; 155A: 2626-2633.