Publication: Meiotic origin of two ring chromosomes 18 in a girl with developmental delay
Meiotic origin of two ring chromosomes 18 in a girl with developmental delay
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Baumer Wolz, A., Giovannucci Uzielli, M. L., Guarducci, S., Lapi, E., Röthlisberger, B., & Schinzel, A. (2002). Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. American Journal of Medical Genetics, 113, 101–104. https://doi.org/10.1002/ajmg.10700
Abstract
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Abstract
We report on the cytogenetic, fluorescence in situ hybridization (FISH), and molecular results obtained for a patient with a mild and nonspecific pattern of minor anomalies and developmental delay. In the proband's karyotype one chromosome 18 was replaced by a ring chromosome 18 in all metaphases, with deletion of the terminal regions. Furthermore, 56% of the metaphases contained a supernumerary small ring chromosome. Microdissection followed by FISH analysis demonstrated that the small ring chromosome consisted of material from the p
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- Giovannucci Uzielli, M L
- Guarducci, S
- Lapi, Elisabetta
- Röthlisberger, B
- Schinzel, Albert
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Baumer Wolz, A., Giovannucci Uzielli, M. L., Guarducci, S., Lapi, E., Röthlisberger, B., & Schinzel, A. (2002). Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. American Journal of Medical Genetics, 113, 101–104. https://doi.org/10.1002/ajmg.10700
