Familial inverted duplication 7p

G. B. Schaefer, K. Novak, D. Steele, B. Buehler, S. Smith, D. Zaleski, D. Pickering, M. Nelson, W. Sanger

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2→p13 portion of chromosome 7[(46, XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication.

Original languageEnglish (US)
Pages (from-to)184-187
Number of pages4
JournalAmerican journal of medical genetics
Volume56
Issue number2
DOIs
StatePublished - 1995

Keywords

  • chromosome 7
  • inverted duplication
  • partial trisomy 7

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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