Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

Barbara K. Goodman, Lisa G. Shaffer, Julie Rutberg, Mary Leppert, Karen Harum, Sarantis Gagos, James H. Ray, Martin G. Bialer, Xianting Zhou, Beth A. Pletcher, Stuart K. Shapira, Michael T. Geraghty

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the clinical phenotype in four males from three families with duplication (X)(qter→q27::p22.3→qter). This is an unusual duplication of the distal long arm segment, Xq27-qter, onto the distal short arm of the X chromosome at Xp22.3, as shown by fluorescent in situ hybridization analysis with multiple X-specific probes. The patients are young male offspring of three unrelated, phenotypically normal carrier women. The affected males have similar clinical manifestations including severe growth retardation and developmental delay, severe axial hypotonia, and minor anomalies. Such clinical similarity in three unrelated families demonstrates that this chromosome abnormality results in a new and distinct clinical phenotype. Replication studies, performed on two of the mothers, provided evidence that inactivation of the abnormal X chromosome permitted the structural abnormality to persist in these families for a generation or more in females without phenotypic expression.

Original languageEnglish (US)
Pages (from-to)377-384
Number of pages8
JournalAmerican journal of medical genetics
Volume80
Issue number4
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • Developmental delay
  • Duplication Xq
  • Growth delay
  • Hypotonia
  • Inherited duplication
  • X chromosome abnormality

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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