Robertsonian Translocation t(21;21) in an Iranian Child Born to Normal Parents

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 428

نسخه کامل این مقاله ارائه نشده است و در دسترس نمی باشد

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:

شناسه ملی سند علمی:

AMSMED20_295

تاریخ نمایه سازی: 22 مهر 1398

چکیده مقاله:

Background: Down Syndrome (DS) is the most common genetic cause of intellectual disability and results from whole or part of third copy of chromosome 21. Overall incidence of DS is 1 in 700 births but it varies widely influenced by advancing maternal age and differs between populations. Almost 90-95% cases of DS are due to pure trisomy of the 21st chromosome; 6-7% is the result of mosaicism with varying percentage of normal and trisomy cells. In 3-5% of DS cases the extra chromosome 21 attaches itself to another acrocentric chromosome; this is known as Robertsonian translocation. Patient Report: The patient was an Iranian girl as the first child of her non-consanguineous parents. She had typical features of DS like mental retardation, developmental delay, hypotonia, flat face, short nose, slanting palpebral fissures, broad nasal bridge, epicanthic folds, low set ears and short neck. Cytogenetic analysis of peripheral blood revealed DS with Robertsonian translocation t(21;21) and the karyotype was 46,XX,der(21;21)(q10;q10),+21. The carrier status for translocation for both parents were identified by peripheral blood karyotype and was found to be have normal karyotype. Conclusion: The present case was a case of DS occurring due to Robertsonian translocation t(21;21). Both the parents of the patient were phenotypically and cytogenetically normal. So the present case of DS occurring due to Robertsonian translocation t(21;21) probably have arisen de novo.

نویسندگان

Mojdeh Mansouri

Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran

Ali Nikfar

Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran

Gita Fatemi Abhari

Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran