Downloads: 94 | Views: 262
Research Paper | Genetics Science | Albania | Volume 5 Issue 2, February 2016 | Popularity: 7 / 10
A First Cytogenetic Study of Down Syndrome in Albania
Anila Babameto - Laku, Dorina Roko
Abstract: Down syndrome (DS) also known as trisomy 21 is a genetic complex disorder and the most common and best known autosomal chromosome abnormality in humans. Even though the majority of cases of DS can be identified based on clinical findings, cytogenetic analysis is essential to confirm the diagnosis and to provide information for genetic counseling. The present study is the first national consecutive series of Down Syndrome in Albanian population during the period 1984-2015. This study allowed the frequency of three basic cytogenetical types and the frequency of occurrence of the rarer karyotypes of Down syndrome to be estimated. Also the maternal age effect on the frequency of births of children with Down syndrome was evaluated. The frequency of occurrence of the different karyotypes was analyzed. The free trisomy 21 was the most common karyotype (nearly 91 % of all cases). The ratio of mosaic trisomy 21 was 2.1 %. The ratio of Robertsonian and reciprocal translocations were 5, 7 % and 0.2 %, respectively. The chromosomal abnormalities (CAs) in addition to trisomy 21 were present in 0, 8 % of all cases. Conclusions Knowledge of the cytogenetic types are essential and carried out greatly helped in the management of these children and for counseling the affected families.
Keywords: D
Edition: Volume 5 Issue 2, February 2016
Pages: 1299 - 1303
DOI: https://www.doi.org/10.21275/NOV161443
Make Sure to Disable the Pop-Up Blocker of Web Browser
Similar Articles
Downloads: 151 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1
Research Paper, Genetics Science, Guatemala, Volume 7 Issue 10, October 2018
Pages: 176 - 177Scientific Discovery on the Way of its Validation
Juan Carlos Perez Velazquez
Downloads: 42
Research Paper, Genetics Science, Ivory Coast, Volume 8 Issue 9, September 2019
Pages: 1212 - 1221Production of Hybrid Seeds by Intraspecific Crossing in Yam Dioscorea alata L
A. E. Ehounou, A. M. Kouakou, J.C. N'zi., K. E. B. Dibi, Y Bakayoko, B. S. Essis, N'zue Boni, A. Gemma, E. Maledon, Asrat Asfaw, P. Adebola, A. S.P. N'guetta
Downloads: 53
Research Paper, Genetics Science, India, Volume 7 Issue 12, December 2018
Pages: 769 - 772Assessment of the Genotoxic Effect Caused by Herbal and Synthetic Toothpaste
Togi Reshma, Rajeshwari Pariki, S. Mahalaxmi, Sheetal Kaur, Belinda D'silva, Sri Kala, V. Venugopal Rao
Downloads: 57
Research Paper, Genetics Science, India, Volume 7 Issue 12, December 2018
Pages: 708 - 709Comparative Effects of Organic and Inorganic Substances in the Repair and Renaturation of DNA
M. Haritha, Aditi Khamamkar, Srivani, Dr. V. Venugopal Rao, Belinda D'silva, D. Srikala
Downloads: 86
Research Paper, Genetics Science, Iraq, Volume 5 Issue 4, April 2016
Pages: 1945 - 1947Detection of Mitochondrial DNA T16189C Polymorphism
Nihad A.M. Al-Rashedi, Emad Uldeen Hateem