D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Antonella Minelli, Giovanna Floridia, Elena Rossi, Maurizio Clementi, Romano Tenconi, Lamberto Camurri, Franca Bernardi, Heidi Hoeller, Carlo Previde Re, Paola Maraschio, Stephen Wood, Orsetta Zuffardi, Cesare Danesino

Research output: Contribution to journalArticle

Abstract

Ten patients with inverted duplication of 8p (inv dup 8p) were studied with cytogenetic, biochemical and molecular techniques. The duplication for the region 8p12-p22 was always associated with a deletion of the locus D8S7 (mapped in 8p23.1) as demonstrated with the probe pSW50 by both in situ hybridization and Southern blot. Restriction fragment length polymorphisms detected by probes pSW50 (1 case) and by pG2LPL35 (locus LPL) (two cases) were informative as to a maternal origin of the anomaly. The activity of glutathione reductase, whose gene maps in the duplicated region at 8p21.1, was increased in all patients. The recognizable phenotype of inv dup 8p includes neonatal hypotonia, prominent forehead, large mouth with everted lower lip, abnormally shaped large ears, brain malformations and severe mental retardation. Our findings indicate that the chromosome rearrangement is homogeneous at least for the presence of the deletion and support the hypothesis of a common mechanism of origin.

Original languageEnglish
Pages (from-to)391-396
Number of pages6
JournalHuman Genetics
Volume92
Issue number4
DOIs
Publication statusPublished - Oct 1993

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)'. Together they form a unique fingerprint.

  • Cite this

    Minelli, A., Floridia, G., Rossi, E., Clementi, M., Tenconi, R., Camurri, L., Bernardi, F., Hoeller, H., Previde Re, C., Maraschio, P., Wood, S., Zuffardi, O., & Danesino, C. (1993). D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Human Genetics, 92(4), 391-396. https://doi.org/10.1007/BF01247342