Brief clinical report: Duplication 3p21→3pter and cyclopia

D. N. Kurtzman; D. L. Van Dyke; C. A. Rich; L. Weiss

doi:10.1002/ajmg.1320270105

Brief clinical report: Duplication 3p21→3pter and cyclopia

D. N. Kurtzman, D. L. Van Dyke, C. A. Rich, L. Weiss

Laboratory Medicine and Pathology

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

18 Scopus citations

Abstract

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

Original language	English (US)
Pages (from-to)	33-37
Number of pages	5
Journal	American journal of medical genetics
Volume	27
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320270105
State	Published - 1987

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320270105

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title = "Brief clinical report: Duplication 3p21→3pter and cyclopia",

abstract = "We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).",

author = "Kurtzman, {D. N.} and {Van Dyke}, {D. L.} and Rich, {C. A.} and L. Weiss",

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AU - Rich, C. A.

AU - Weiss, L.

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AB - We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

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Brief clinical report: Duplication 3p21→3pter and cyclopia

Abstract

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