Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

Ruti Parvari, S. Mumm, A. Galil, E. Manor, Y. Bar-David, R. Carmi

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb apart) at Xq28, about 500 kb telomeric to the FMR1 gene. The total length of the deletion is approximately 8.5 Mb. The propositus's mother, who was found to be a carrier of the deletion, showed very mild mental impairment. Except for mental retardation, which is a common finding in all cases reported with similar deletions of chromosome Xq, this patient had generalized overgrowth, exceeding the 97th centile for height and weight. Obesity and increased growth parameters have been reported in other patients with deletions either overlapping or within a distance of 0.5 Mb from the deletion in the present patient. Thus, it is suggested that a deletion of the 8-Mb fragment centromeric to the FMR1 gene might have an effect on growth.

Original languageEnglish
Pages (from-to)302-307
Number of pages6
JournalAmerican journal of medical genetics
Volume83
Issue number4
DOIs
StatePublished - Apr 2 1999

Keywords

  • 8.5-Mb deletion
  • FMR1
  • Fragile X
  • Overgrowth

Fingerprint Dive into the research topics of 'Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth'. Together they form a unique fingerprint.

  • Cite this