Partial trisomy 13q identified by sequential fluorescence in situ hybridization

V. V.N.G. Rao, N. J. Carpenter, M. Gucsavas, J. Coldwell, B. Say

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1). The mother's chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL-banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32-qter).

Original languageEnglish (US)
Pages (from-to)50-53
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume58
Issue number1
DOIs
StatePublished - Aug 4 1995
Externally publishedYes

Keywords

  • FISH
  • anomalies
  • partial trisomy 13q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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