An analysis of xq deletions

Paola Maraschio, Rossella Tupler, Laura Barbierato, Eleonora Dainotti, Daniela Larizza, Franca Bernardi, Heidi Hoeller, Angiolina Garau, Luciano Tiepolo

Research output: Contribution to journalArticlepeer-review


We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion revealed that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xq24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.

Original languageEnglish
Pages (from-to)375-381
Number of pages7
JournalHuman Genetics
Issue number3
Publication statusPublished - Mar 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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