Pooja Chauhan, Amit Kumar Rai

ANALYSIS BY DNA OLIGO-ARRAYS MOLECULAR CYTOGENETIC IDENTIFIED A SIZE OF 40 MB RING X CHROMOSOME 46/45 MOSAIC GIRL SUSPECTED FOR TURNER SYNDROME

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Purpose: A number of people meet with the infertility in their reproductive ages. If we list out the reasons of infertility state there are a number of problems. Among these problems, primary amenorrhea is a condition that leads to many other diseases/symptoms. Ring chromosome of X chromosome is one of the structural anomalies which are associated with manifestation of primary amenorrhea due ovarian dysgenesis. Ring chromosome may be present in mosaic form or present in all cells of an individual. Clinical Methods: history of 14 years girl was recorded. Around 5 ml peripheral blood was drawn in a sterilized syringe under complete aseptic condition. Whole blood culture was set with 0.5 ml peripheral blood for cytogenetic experiments like G banding, Karyotyping including FISH. Rest of the peripheral blood was used for extraction of genomic DNA for DNA HD-oligo array. Anal Results: ysis by DNA oligo-arrays molecular cytogenetic identied a size of 40 Mb ring X chromosome 46/45 mosaic girl suspected for Turner Syndrome Conclusion: It was concluded that ring (X) chromosomes lead to phenotypic heterogeneity which varies remarkably with its gene content and level of mosaicism.

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