Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient.
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Date
1999-01
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Abstract
Fragile site at Xq27.3 is classified as a rare fragile site which is observed only under conditions of folate depletion Here we report a case where fragile site at Xq27.3 was detected in normal RPMI 1640 medium without induction, in the lymphocytes of a patient clinically diagnosed as fragile X patient. At the molecular level both an expansion and methylation of (CGG)n repeat at FMRI was detected.
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Keywords
Fragile-X syndrome, cytology, repeat expansion
Citation
Bhaskaran Sujatha, Tilak Preetha, Lincoln Shavanthi, Thomas I M, Brahmachari Vani. Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient. Indian Journal of Human Genetics. 1999 Jan; 5(1): 37-40.