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)

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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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title = "Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy",

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.",

keywords = "Carrier testing, Deletion, Duchenne muscular dystrophy, Prenatal diagnosis, RFLP",

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

year = "1988",

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AU - Pericak‐Vance, Margaret A.

AU - Yamaoka, Larry H.

AU - Koh, James

AU - Hung, Wu‐Yen ‐Y

AU - Gaskell, Peter C.

AU - Vance, Jeffery M.

AU - Bartlett, Richard J.

AU - Roses, Allen D.

PY - 1988/7

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N2 - 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.

AB - 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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KW - Deletion

KW - Duchenne muscular dystrophy

KW - Prenatal diagnosis

KW - RFLP

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Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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