SavedAdd your journal

Journals / Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi / 2008 / Cilt: 22 - Sayı: 3

Pediatric genetics

Pediatrik genetik

Bozkaya Özlem GİRAY
Pages
171–179
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Therefore basic genetics should be well known by clinicians and pediatricians.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:One or more major congenital abnormalities are encountered among newborns at a rate of 3-10%.
📊
Key Findings & Data:Genetic causes are seen in 50% of the hospitalized pediatric patients.
💡
Conclusion & Impact:Therefore basic genetics should be well known by clinicians and pediatricians.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

One or more major congenital abnormalities are encountered among newborns at a rate of 3-10%. Genetic causes are seen in 50% of the hospitalized pediatric patients. This rate is 5% for young adults. Therefore basic genetics should be well known by clinicians and pediatricians.

Özet

Yenidoğanların yaklaşık %3-10’u bir ya da daha fazla majör fiziksel anomali ile doğmaktadırlar. Pediatri servislerinde yatan hastaların, hastalıklarının yaklaşık %50’sinin etyolojisinde genetik faktörler rol oynamaktadır. Genç erişkinlerde bu oran %5 olarak bildirilmiştir. Bu nedenlerle, temel genetik prensiplerin ve uygulamaların tüm kinisyenler, özellikle de pediatristler tarafından bilinmesi gerekmektedir.

🔖

Cite This Article

GİRAY, B. Ö. (2008). Pediatric genetics. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, Cilt: 22 - Sayı: 3, 171–179. https://ajindex.com/articles/197934

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (14)

  1. Lawn JE, Rudan I, Rubens C. Four million newborn deaths: Is the global research agenda evidence-based? Early human development 2008;84:809-814
  2. Gissler M, Alexander S, Macfarlane A et al. Stillbirths and infant deaths among migrants in industrialized countries. Acta Obst Gynecologica 2009;88:134-148
  3. South Africa Every Death Counts Writing Group, Bradshaw D, Chopra M, Kerber K, Lawn JE, Bamford L, Moodley J, Pattison R, Patrick M, Stephen C, Velaphi S. Every death counts;use of mortality audit data for decision making to save the lives of mothers, babies, and children in South Africa. Lancet 2008;371:1294-1304
  4. Young ID. Congenital malformations; Incidence and genetics of congenital malformations. In: Brock DIH, RedeckCH, Ferguson-Smith MA, editors. Prenatal diagnosis and screening. Edinburg: Longman Group UK Limited; 1992;71-71
  5. Rimoin DL, Connor JM, Pyeritz RE eds, Emery and Rimoin’s principles and practice of medical genetics (3rd ed). Churchill Livingstone, New York 1997
  6. Cohen MM. The child with multiple birth defects. Oxford University Press, Oxford 1997
  7. Robinson A, Linden MG. Clinical genetics handbook. 2nd ed. Boston: Blackwell Scientific Publications; 1993
  8. Hook EB. Chromosome abnormalities. Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, Ferguson- Smith MA, editors. Prenatal diagnosis and screening. Edinburg: Churchill Livingstone; 1992;351-392
  9. Alikaşifoğlu M. Moleküler sitogenetik. Katkı Pediatri Dergisi. Ankara, Hacettepe Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı ve Çocuk Sağlığı Enstitüsü Yayını, 1997:604-615
  10. Kallioniemi OP, Kallioniemi A, Sudar D, Gray JW, Waldman F, Pinkel D. Comparative Genomic Hybridization for moleculer cytogenetic analysis of solid tumor. Science1992; 258:818-821
  11. Stoeva RE, Grozdanova LI, Vermeesch JR et al. Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. Folia Med 2008;50:55-62
  12. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009;1151:157-166
  13. Patterns of single-gene inheritance. In: Nussbaum RL, McInnes RR, Willard HF, editors. Thompson and Thompson Genetics in Medicine 6th ed. Philadelphia, Pennsylvania: WB Saunders Company; 2001;51-78
  14. The human genome: structure and functi