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Journals / Journal of Neurological Sciences (Turkish) / 2008 / Cilt: 25 - Sayı: 1

Sütçocukluğu döneminin benign ailevi konvülsiyonları olan bir ailede 15. kromozom inversiyonu

Inversion of chromosome 15 in A family with benign familial infantile seizures

Derya ERÇAL
Nedret URAN
Özlem GİRAY
Aycan ÜNALP
Pages
55–58
Publication Date
2022-10-19
DOI
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AI Summary & Key Takeaways

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

In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes or small supernumerary chromosomes, which are often associated with developmental delay and malformations .
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Key Findings & Data:The most common of the heterogeneous group of the extra structurally abnormal chromosomes is the inv dup (15), whose presence results in tetrasomy 15p and partial tetrasomy 15q.
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Conclusion & Impact:In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes or small supernumerary chromosomes, which are often associated with developmental delay and malformations . The most common of the heterogeneous group of the extra structurally abnormal chromosomes is the inv dup (15), whose presence results in tetrasomy 15p and partial tetrasomy 15q. In the literature, benign familial infantile seizures locus have been found in 19q12-13.1 ve 16p12-q12 chromosomes. In this study, we descript a family which have benign familial infantile seizures accompanied by 15 q21.1, q26.2 inversion, because it has not been declareded before.

Özet

Son yıllarda yapılan moleküler sitogenetik çalışmalar, sıklıkla gelişim geriliği ve malformasyonlara neden olan, yapısal olarak anormal olan veya küçük ekstra kromozoma sahip olan kromozomların orijin ve doğasını aydınlatmıştır. Bunlardan en sık rastlananlardan biri olan inv dup (15)'tir ve tetrazomi 15p ve parsiyel tetrazomi 15q ile sonuçlanır. Literatürde selim ailevi süt çocukluğu dönemi konvulsiyonlarının lokusu 19q12-13.1 ve 16p12-q12 kromozomlarında saptanmıştır. Biz bu yazıda 15 q21.1, q26.2 inversiyonunun eşlik ettiği selim ailevi süt çocukluğu dönemi konvulsiyonları olan bir aileyi daha önce bildirilmemiş olduğu için yayınlamayı uygun bulduk.

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Cite This Article

ERÇAL, D., URAN, N., GİRAY, Ö., ÜNALP, A. (2022). Sütçocukluğu döneminin benign ailevi konvülsiyonları olan bir ailede 15. kromozom inversiyonu. Journal of Neurological Sciences (Turkish), Cilt: 25 - Sayı: 1, 55–58. https://ajindex.com/articles/565549

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References (8)

  1. Battaglia A. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev. 2005; 27: 365-9
  2. Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997; 48: 1081-6
  3. Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A. The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings. J Child Neurol. 2000; 15: 380-6
  4. Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgro V, Elia M, Canger R, Canevini MP. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia. 2002; 43: 1096-100
  5. Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.J Med Genet. 2007 Aug 3; [Epub ahead of print]
  6. Hou JW, Wang TR. Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan. Eur J Pediatr. 1998 Feb; 157: 122-7
  7. Pıcard F, Scheffer IE. Recently defined genetic epilepsy syndromes. In: Epileptic Syndromes, in infancy, childhood and adolescence. Third edition. Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P. John LibbeyUnited Kingdom. P. 487
  8. Zhou XH, Ma AQ, Liu XH, Huang C, Zhang YM, Shi RM. [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family] Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):487-91.