Pure trisomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics

J. Maluszynska (Editor), D Schweizer (Editor), Glyn Jenkins (Editor)

Research output: Book/ReportEdited book

15 Citations (Scopus)

Abstract

With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p.

Original languageEnglish
PublisherWydawnictwo Uniwersytet Śląski w Katowicach
Number of pages4
Volume102
Edition4
ISBN (Print)9788322610671, 832261067X
DOIs
Publication statusPublished - 01 Sept 2001

Publication series

NameAmerican Journal of Medical Genetics
ISSN (Print)0148-7299

Keywords

  • Chromosome microdissection
  • Fluorescence in-situ hybridization
  • Multiple congenital anomalies
  • Spectral karyotyping

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