Duplication of the short arm of the X chromosome in mother and daugther

Cathy M. Tuck-Muller, Jose E. Martinez, Denise A.S. Batista, William G. Kearns, Wladimir Wertelecki

Research output: Contribution to journalArticlepeer-review


An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter→p22.3: :p22.3→ cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromerespecific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.

Original languageEnglish (US)
Pages (from-to)395-400
Number of pages6
JournalHuman genetics
Issue number4
StatePublished - May 1 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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