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

doi:10.1002/ajmg.1320330415

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 journal › Article › peer-review

28 Scopus citations

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 language	English (US)
Pages (from-to)	485-488
Number of pages	4
Journal	American journal of medical genetics
Volume	33
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320330415
State	Published - 1989
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)

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AU - Diergaarde, P. J.

AU - Greb, A. E.

AU - Maumenee, I. H.

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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