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Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities  S. Das, C.M. Lese,

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Presentation on theme: "Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities  S. Das, C.M. Lese,"— Presentation transcript:

1 Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities  S. Das, C.M. Lese, M. Song, J.L. Jensen, L.A. Wells, B.L. Barnoski, J.A. Roseberry, J.M. Camacho, D.H. Ledbetter, R.E. Schnur  The American Journal of Human Genetics  Volume 67, Issue 6, Pages (December 2000) DOI: /316897 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Somatic recombination resulting in paternal isodisomy for the distal portion of 6q. Mitotic recombination and random segregation of sister chromatids can result in other cell populations with maternal isodisomy and biparental inheritance of chromosome 6. The extent of mosaicism will depend on the stage at which the recombinational event occurs. The American Journal of Human Genetics  , DOI: ( /316897) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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