Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1)

A. Wiktor, D. L. Van Dyke, L. Weiss

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Abstract

We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47,XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48,XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.

Original languageEnglish (US)
Pages (from-to)22-24
Number of pages3
JournalAmerican journal of medical genetics
Volume45
Issue number1
DOIs
StatePublished - Jan 20 1993

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Keywords

  • X chromosome
  • chromosome 17
  • in situ hybridization
  • neurofibromatosis
  • ring chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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