Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease

D. Zhu, S. E. Antonarakis, B. J. Schmeckpeper, P. J. Diergaarde, A. E. Greb, I. H. Maumenee

Research output: Contribution to journalArticlepeer-review

Abstract

We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.

Original languageEnglish (US)
Pages (from-to)485-488
Number of pages4
JournalAmerican journal of medical genetics
Volume33
Issue number4
DOIs
StatePublished - 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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