Publication: Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy
Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy
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Schinzel, A., Kotzot, D., Brecevic, L., Robinson, W. P., Dutly, F., Dauwerse, H., Binkert, F., Baumer Wolz, A., & Ausserer, B. (1997). Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. European Journal of Human Genetics, 5, 308–314. https://doi.org/10.1007/BF03405934
Abstract
Abstract
Abstract
A 2-year-old, short, microcephalic and developmentally retarded boy revealed a pattern of multiple minor anomalies, hypospadias and a dysplastic right kidney. Maternal age at delivery was 41 years. His karyotype showed two cell lines, one apparently normal, the other with a 1p+ chromosome. FISH examinations showed that the segment attached to 1p was from chromosome 16, and molecular investigations disclosed maternal heterodisomy 16, except for the segment (16)(pter-->p13.1) for which there was mosaicism between trisomy and uniparental
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- Schinzel, Albert
- Kotzot, Dieter
- Brecevic, Lukrecija
- Robinson, Wendy P
- Dutly, Fabrizio
- Dauwerse, Hans
- Binkert, Franz
- Ausserer, Bernd
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Schinzel, A., Kotzot, D., Brecevic, L., Robinson, W. P., Dutly, F., Dauwerse, H., Binkert, F., Baumer Wolz, A., & Ausserer, B. (1997). Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. European Journal of Human Genetics, 5, 308–314. https://doi.org/10.1007/BF03405934
