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Journals / International Archives of Medical Research / 2012 / Volume: 4 Issue: 2

A de novo reciprocal t(1;17) translocation with regular trisomy 21

Selda Sımsek
Aysegul Turkyılmaz
Hilmi Isı
Diclehan Oral
Selahaddin Tekes
Mehmet Nur Talay
Pages
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Publication Date
2012-12-01
DOI
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AI Summary & Key Takeaways

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

The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: A -37 days male infant with Down syndrome exhibited an autosomal translocation t(1;17) in addition to trisomy 21.
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Key Findings & Data:Case:A 37 days male infant with Down syndrome was referred to Dicle University, Medical Faculty, Department of Medical Biology for karyotype analysis.
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Conclusion & Impact:The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation
🔬Design:Article
📍Scope:Comprehensive Sample
⚙️Variables:Down syndrome · reciprocal translocation · interchromosomal effect

Abstract

Aim: A -37 days male infant with Down syndrome exhibited an autosomal translocation t(1;17) in addition to trisomy 21. Case:A 37 days male infant with Down syndrome was referred to Dicle University, Medical Faculty, Department of Medical Biology for karyotype analysis. On detailed clinical examination of the case was performed in the department of pediatry. Cytogenetic analysis was performed by standart peripheral blood culture and GTG method by using phytohemagglutinin-stimulated lymphocyte.The chromosomal constitution of the patient was found to be 47, XX, t(1;17), +21.His parents showed a normal chromosome complement. The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation

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Cite This Article

Sımsek, S., Turkyılmaz, A., Isı, H., Oral, D., Tekes, S., Talay, M. N. (2012). A de novo reciprocal t(1;17) translocation with regular trisomy 21. International Archives of Medical Research, Volume: 4 Issue: 2. https://ajindex.com/articles/1493248

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References (6)

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