Prenatal diagnosis of X-linked retinitis pigmentosa (rp) in five pregnancies at risk

M. P. Iampieri, R. Mingarelli, E. Le Guern, G. Novelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.

Original languageEnglish
Pages (from-to)285-289
Number of pages5
JournalPrenatal Diagnosis
Volume14
Issue number4
Publication statusPublished - 1994

Keywords

  • DNA probes
  • RP2
  • RP3
  • X-linked retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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