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International Journal of Molecular and Cellular Medicine، جلد ۱۲، شماره ۱، صفحات ۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin |
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| چکیده انگلیسی مقاله |
Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1:50. The study was performed on the amniotic fluid and peripheral blood samples received at clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis using amniotic fluid sample found a triploid fetus with unexpected balanced chromosomal translocation: 69,XXX,t(2;9)(q11.2;p22)x2. Later the origin of translocation was confirmed by parental chromosomal study. Cytogenetic analysis showed the presence of translocation involving chromosome 2 and 9 in the mother which confirms the maternal origin of translocation in fetal triploidy. Prenatal diagnosis of fetal triploidy with balanced translocation of maternal origin is a rare finding. In present study, the triploidy arise from the failure to expel the second polar body. It is important to perform prenatal fetal imaging with ultrasound at 18-22 weeks to identify any fetal anomalies or intrauterine growth retardation which is associated with triploidy. |
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| کلیدواژه‌های انگلیسی مقاله |
Prenatal diagnosis, fetal abnormality, amniocentesis, balanced translocation, aneuploidy detection, genetic counseling |
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| نویسندگان مقاله |
| Ajinkya Jadhav
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
| Yamini Jadhav
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
| Vidya Bhairi
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
| Rukaiya Ansari
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
| Premkumar Torane
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
| Krutika Patil
Clinical Cytogenetics Department, Lilac Insights Pvt. Ltd., Navi Mumbai, (Maharashtra), India.
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| نشانی اینترنتی |
http://ijmcmed.org/browse.php?a_code=A-10-4714-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Genetics & Disease |
| نوع مقاله منتشر شده |
Case Report |
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