Publication: Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl
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Date
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Citations
Brecevic, L., Basaran, S., Dutly, F., Röthlisberger, B., & Schinzel, A. (2000). Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. Journal of Medical Genetics, 37(12), 964–967. https://doi.org/10.1136/jmg.37.12.964
Abstract
Abstract
Abstract
EDITOR—Application of chromosome painting has enabled confirmation that an additional segment in a presumed tandem duplication originates from the rearranged chromosome. More recent studies to determine more accurately the exact amount of duplication with cosmid FISH probes have, in a few instances, shown that some of the presumed duplications were in fact triplications of smaller segments.1-7 In some of these patients, unequal distances between the FISH signals showed that the middle segment of the tandemly arrayed three segments was
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Creators (Authors)
- Brecevic, Lukrecija
- Basaran, Seher
- Dutly, Fabrizio
- Röthlisberger, Benno
- Schinzel, Albert
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Citations
Brecevic, L., Basaran, S., Dutly, F., Röthlisberger, B., & Schinzel, A. (2000). Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. Journal of Medical Genetics, 37(12), 964–967. https://doi.org/10.1136/jmg.37.12.964
