A paternally derived inverted duplication of 7q with evidence of a telomeric deletion

Gail Stetten, Lawrence L. Charity, Laura M. Kasch, Alan F. Scott, Cindy L. Berman, Eva Pressman, Karin J. Blakemore

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Abstract

We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2- q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.

Original languageEnglish (US)
Pages (from-to)76-81
Number of pages6
JournalAmerican journal of medical genetics
Volume68
Issue number1
DOIs
StatePublished - Jan 10 1997

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Keywords

  • 7q
  • deletion
  • duplication
  • inverted

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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