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?

Mauro Piantanida, Claudia Dellavecchia, Giovanna Floridia, Sabrina Giglio, Heidi Hoeller, Benedetto Dordi, Cesare Danesino, Albert Schinzel, Orsetta Zuffardi

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psudic(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.

Original languageEnglish
Pages (from-to)766-771
Number of pages6
JournalHuman Genetics
Volume99
Issue number6
DOIs
Publication statusPublished - Jun 1997

Fingerprint

Chromosomes, Human, Pair 8
Gait
Intellectual Disability
Mothers
Uniparental Disomy
Genes
Recessive Genes
DNA
Telomere
Meiosis
Karyotype
Fibroblasts
Chromosomes
Alleles
Lymphocytes
Cell Line
Skin
Imprinting (Psychology)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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? / Piantanida, Mauro; Dellavecchia, Claudia; Floridia, Giovanna; Giglio, Sabrina; Hoeller, Heidi; Dordi, Benedetto; Danesino, Cesare; Schinzel, Albert; Zuffardi, Orsetta.

In: Human Genetics, Vol. 99, No. 6, 06.1997, p. 766-771.

Research output: Contribution to journalArticle

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, vol. 99, no. 6, pp. 766-771. https://doi.org/10.1007/s004390050445
Piantanida, Mauro ; Dellavecchia, Claudia ; Floridia, Giovanna ; Giglio, Sabrina ; Hoeller, Heidi ; Dordi, Benedetto ; Danesino, Cesare ; Schinzel, Albert ; Zuffardi, Orsetta. / 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?. In: Human Genetics. 1997 ; Vol. 99, No. 6. pp. 766-771.
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