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
M PiantanidaOrsetta Zuffardi

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 rearrangement occurred during maternal meiosis in a chromosome recombinant with a minimum of seven crossovers. To our knowledge this is the first case of uniparental maternal disomy for chromosome 8 and of nullisomy for the distal 1-cM portion of the short arm. The available data are in favour of the assumption that no imprinted genes are present on chromosome 8. Thus, dysmorphisms, motor and mental retardation of the proposita are likely to be caused by the nullisomy for the region distal to D8S264, a region in which a recessive gene for epilepsy with progressive mental retardation is known to be located.

Citations

Sep 24, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Kellie A RanceJohn R Speakman
May 2, 2002·The Journal of Investigative Dermatology·Abraham ZlotogorskiAngela M Christiano
Jan 27, 2015·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Yueh-Chun LiChyi-Chyang Lin
Jan 8, 1999·American Journal of Medical Genetics·C DanesinoL Seghezzi
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Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jun 11, 2009·Clinical Genetics·O ZuffardiR Giorda

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