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Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

Vijay Tonk

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

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Roger A. Schultz,

Roger A. Schultz

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

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Susan L. Christian,

Susan L. Christian

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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Takeo Kubota,

Takeo Kubota

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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David H. Ledbetter,

David H. Ledbetter

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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Golder N. Wilson,

Corresponding Author

Golder N. Wilson

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

Professor of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235-9063Search for more papers by this author

Vijay Tonk,

Vijay Tonk

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

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Roger A. Schultz,

Roger A. Schultz

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

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Susan L. Christian,

Susan L. Christian

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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Takeo Kubota,

Takeo Kubota

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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David H. Ledbetter,

David H. Ledbetter

National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland

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Golder N. Wilson,

Corresponding Author

Golder N. Wilson

Departments of Pathology and Pediatrics, and the McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas

Professor of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235-9063Search for more papers by this author

First published: 30 December 1996

https://doi.org/10.1002/(SICI)1096-8628(19961230)66:4<426::AID-AJMG7>3.0.CO;2-I

Citations: 11

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Abstract

A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome. © 1996 Wiley-Liss, Inc.

References

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Volume66, Issue4

30 December 1996

Pages 426-428

Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

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Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

Abstract

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