Publication: Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
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Piantanida, M., Dellavecchia, C., Floridia, G., Giglio, S., Hoeller, H., Dordi, B., Danesino, C., Schinzel, A., & Zuffardi, O. (1997). Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Human Genetics, 99, 766–771. https://doi.org/10.1007/s004390050445
Abstract
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Abstract
A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. Analysis of DNA polymorphisms of 38 loci spread along the entire chromosome 8 revealed that only maternal alleles were present, distributed in four heterozygous and four homozygous regions. This finding indicated that the
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- Piantanida, Mauro
- Dellavecchia, Claudia
- Floridia, Giovanna
- Giglio, Sabrina
- Hoeller, Heidi
- Dordi, Benedetto
- Danesino, Cesare
- Schinzel, Albert
- Zuffardi, Orsetta
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Piantanida, M., Dellavecchia, C., Floridia, G., Giglio, S., Hoeller, H., Dordi, B., Danesino, C., Schinzel, A., & Zuffardi, O. (1997). Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Human Genetics, 99, 766–771. https://doi.org/10.1007/s004390050445
