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- W2275644430 abstract "Chromosomal translocation is an uncommon cause of short stature. About 20 cases of t(14;14) or t(13;14) translocation were noted in patients with short stature, and all of these cases were found to have a specific genetic syndrome – maternal uniparental disomy (UPD) of chromosome 14. Here we report a case of short stature with t(13;14) translocation. A 25 year-old female was referred for the evaluation of short stature. She had low birth weight, short stature since birth, and mild developmental delay with slightly lower intelligence. She had no dysmorphic features, and physical examination was normal except for her short stature of 132 cm. Laboratory examinations did not reveal any significant finding, except for chromosomal analysis that showed t(13;14) translocation. Maternal UDP of chromosome 14 was the most possible cause in this case. In conclusion, chromosome analysis plays an important part in the evaluation for short stature. The finding of t(13;14) translocation with short stature is a hint of the possibility of maternal UDP of chromosome 14 which is a well-characterized syndrome consisting of short stature." @default.
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- W2275644430 date "2002-04-01" @default.
- W2275644430 modified "2023-09-23" @default.
- W2275644430 title "Au Uncommon Cause of Short Stature：t（13；14）Translocation–A Case Report" @default.
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