Prenatal diagnosis of a fetus with a homologous robertsonian translocation of chromosomes 15

S. W. Cheung, L. G. Shaffer, Carolyn (Sue) Richards, S. L. Page, D. L. Riconda

Research output: Contribution to journalArticle

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Abstract

We present a prenatal diagnosis of a de novo homologous Robertsonian translocation involving both chromosomes 15. Amniocentesis was performed on a 36-year-old woman at 16.5 weeks of gestation. Chromosome analysis documented a 45,XX,der(15;15) (q10;q10) chromosome pattern. No evidence of a deletion was observed by FISH using a SNRPN DNA probe associated with the Prader- Willi/Angelman syndrome critical region. Molecular studies in the family using six polymorphic markers for chromosome 15 and Southern blot analysis of DNA methylation for the CpG island near the SNRPN gene showed normal biparental inheritance of chromosome 15, excluding uniparental disomy. The patient was counseled that her child would not be able to bear off-spring without clinical assistance. Otherwise the health and intellect of her child were not expected to be affected by the translocation. We consider this to be the first prenatal case identified with a balanced der(15;15)(q10;q10) Robertsonian translocation and a phenotypically normal female outcome. Prenatally identified cases of der(15;15)(q10;q10) warrant further investigation by molecular methodology.

Original languageEnglish (US)
Pages (from-to)47-50
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume72
Issue number1
DOIs
Publication statusPublished - 1997
Externally publishedYes

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Keywords

  • Der(15;15)(q10;q10)
  • Prenatal diagnosis
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics(clinical)

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