Concepedia

Absence of predictable phenotypic expression in proximal 15q duplications

Carol Ludowese, Kate J. Thompson, Gurbax S. Sekhon, Richard M. Pauli

Clinical Genetics · 1991 · 33 citations · 8 references

DOI

Concepts

Abstract

We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.

References

8

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

Joan H.M. Knoll, Robert D. Nicholls, R.E. Magenis et al. · American Journal of Medical Genetics · 1989 · 583 citations

, , +17

Accuracy of fetal death reports: comparison with data from an independent stillbirth assessment program.

Anne Greb, Richard M. Pauli, Russell S. Kirby · American Journal of Public Health · 1987 · 81 citations

, , +16

Duplication of proximal 15q as a cause of Prader‐Willi syndrome

Anjana L. Pettigrew, Susanne M. Gollin, Frank Greenberg et al. · American Journal of Medical Genetics · 1987 · 40 citations

, , +15

Proximal 15q variant with normal phenotype in three unrelated individuals

Ross Brookwell, Adam Veleba · Clinical Genetics · 1987 · 32 citations

, , +10

Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion

H. F. de France, F. A. Beemer, P.F. Ippel · Clinical Genetics · 1984 · 29 citations

, , +15