KaydedilenlerDerginizi ekleyin

Dergiler / The Journal of Pediatric Research / 2020 / Cilt: 7 - Sayı: 4

Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

Esra IŞIK
Bilcağ AKGÜN
TAHİR ATİK
Ferda OZKINAY
Özgür ÇOĞULU
Sayfa
267–272
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)

A total of 6 cases in which del (18p) in one case, del (18q) in 4 cases and i (18q) in one case wereevaluated.Conclusion: Although a wide range of phenotypic findings, depending on the affected chromosomal region and size, can be seen in patients whocarry structural chromosome 18 anomalies, some additional novel features are presented in our series which will contribute to the literature.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Aim: Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability.
📊
Temel Bulgular & Veri:In this study, 6 caseswith structural anomalies of chromosome 18 diagnosed by using conventional and molecular cytogenetic analyses are presented.Materials and Methods: Six cases who were carrying structural chromosome 18 abnormalities were enrolled in the study.
💡
Sonuç & Katkı:A total of 6 cases in which del (18p) in one case, del (18q) in 4 cases and i (18q) in one case wereevaluated.Conclusion: Although a wide range of phenotypic findings, depending on the affected chromosomal region and size, can be seen in patients whocarry structural chromosome 18 anomalies, some additional novel features are presented in our series which will contribute to the literature.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Aim: Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability. In this study, 6 caseswith structural anomalies of chromosome 18 diagnosed by using conventional and molecular cytogenetic analyses are presented.Materials and Methods: Six cases who were carrying structural chromosome 18 abnormalities were enrolled in the study. Developmentalmilestones, growth parameters and dysmorphologic features were evaluated by experienced clinical geneticists. Laboratory analysis includinggenetic tests, imaging studies, and eye and hearing examinations were obtained from the medical records, retrospectively.Results: All cases had karyotype analysis, 2 cases had fluorescence in situ hybridization analysis and one case had microarray analysis, whichwere performed by using peripheral blood. A total of 6 cases in which del (18p) in one case, del (18q) in 4 cases and i (18q) in one case wereevaluated.Conclusion: Although a wide range of phenotypic findings, depending on the affected chromosomal region and size, can be seen in patients whocarry structural chromosome 18 anomalies, some additional novel features are presented in our series which will contribute to the literature.

🔖

Bu Makaleye Atıf Yap

IŞIK, E., AKGÜN, B., ATİK, T., OZKINAY, F., ÇOĞULU, Ö. (2020). Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings. The Journal of Pediatric Research, Cilt: 7 - Sayı: 4, 267–272. https://ajindex.com/articles/363001

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (12)

  1. Hsu LYF. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Genetic disorders and the fetus, Milunsky A (Ed), 4th ed. Baltimore, The Johns Hopkins University Press 1998; 179
  2. Feenstra I, Vissers LELM, Orsel M, et al. Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map. Am J Med Genet Part A 2007; 143:1858-67. 3. de Grouchy J. The 18p-, 18q- and 18r syndromes. Birth Defects 1969; 5:74-87
  3. Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA. Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects. Rev Paul Pediatr 2013; 31:111-20
  4. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {146390}: {07/09/2016}: World Wide Web URL:
  5. Turleau C. Monosomy 18p. Orphanet J Rare Dis 2008; 19;3-4
  6. Wester U, Bondeson ML, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet 2006; 140:1164-71
  7. Chen CP, Kuo YT, Lin SP, et al. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol 2010; 49:327- 32
  8. Dostal A, Nemeckova J, Gaillyova R. The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. J Craniomaxillofac Surg 2009; 37:272-5
  9. Verrotti A, Carelli A, di Genova L, Striano P. Epilepsy and chromosome 18 abnormalities: A review. Seizur 2015; 32:78-83
  10. Maruani A, Huguet G, Beggiato A, et al. 11q24.2-25 MicroRearrangements in Autism Spectrum Disorders: Relation to Brain Structures. Am J Med Genet 2015; 167:3019-30
  11. Park JP, Moeschler JB. Isochromosome 18q revisited. Prenat Diagn 1997; 17:589-90
  12. Pal S, Siti MI, Ankathil R, Zilfalil BA. Two cases of isochromosome 18q syndrome. Singapore Med J 2007; 48:146-50.