Publication: "Essentially pure" partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)
"Essentially pure" partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)
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Röthlisberger, B., Kotzot, D., Gnehm, H. E., & Schinzel, A. (1999). “Essentially pure” partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3). American Journal of Medical Genetics, 85, 389–394. https://doi.org/10.1002/(SICI)1096-8628(19990806)85:4<389::AID-AJMG16>3.0.CO;2-A
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We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with th
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- Röthlisberger, Benno
- Kotzot, Dieter
- Gnehm, Hanspeter E
- Schinzel, Albert
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Röthlisberger, B., Kotzot, D., Gnehm, H. E., & Schinzel, A. (1999). “Essentially pure” partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3). American Journal of Medical Genetics, 85, 389–394. https://doi.org/10.1002/(SICI)1096-8628(19990806)85:4<389::AID-AJMG16>3.0.CO;2-A
