Absence of predictable phenotypic expression in proximal 15q duplications

C J Ludowese; K J Thompson; G S Sekhon; R M Pauli

doi:10.1111/j.1399-0004.1991.tb03076.x

Absence of predictable phenotypic expression in proximal 15q duplications

Clin Genet. 1991 Sep;40(3):194-201. doi: 10.1111/j.1399-0004.1991.tb03076.x.

Authors

C J Ludowese¹, K J Thompson, G S Sekhon, R M Pauli

Affiliation

¹ Department of Medical Genetics, University of Wisconsin-Madison.

PMID: 1773534
DOI: 10.1111/j.1399-0004.1991.tb03076.x

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.

Publication types

Case Reports

MeSH terms

Adult
Chromosomes, Human, Pair 15*
Female
Humans
Infant, Newborn
Karyotyping
Male
Middle Aged
Multigene Family / genetics*
Mutagenesis, Insertional / genetics*
Phenotype
Prader-Willi Syndrome / genetics