Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Marcy C. Speer; Margaret A. Pericak‐Vance; Larry H. Yamaoka; James Koh; Wu‐Yen ‐Y Hung; Peter C. Gaskell; Jeffery M. Vance; Richard J. Bartlett; Allen D. Roses

doi:10.1002/pd.1970080607

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Marcy C. Speer, Margaret A. Pericak‐Vance, Larry H. Yamaoka, James Koh, Wu‐Yen ‐Y Hung, Peter C. Gaskell, Jeffery M. Vance, Richard J. Bartlett, Allen D. Roses

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.

Original language	English (US)
Pages (from-to)	427-437
Number of pages	11
Journal	Prenatal Diagnosis
Volume	8
Issue number	6
DOIs	https://doi.org/10.1002/pd.1970080607
State	Published - Jul 1988
Externally published	Yes

Keywords

Carrier testing
Deletion
Duchenne muscular dystrophy
Prenatal diagnosis
RFLP

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

Access to Document

10.1002/pd.1970080607

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Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy. / Speer, Marcy C.; Pericak‐Vance, Margaret A.; Yamaoka, Larry H.; Koh, James; Hung, Wu‐Yen ‐Y; Gaskell, Peter C.; Vance, Jeffery M.; Bartlett, Richard J.; Roses, Allen D.

In: Prenatal Diagnosis, Vol. 8, No. 6, 07.1988, p. 427-437.

Research output: Contribution to journal › Article › peer-review

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abstract = "Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.",

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