Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

Am J Med Genet A. 2009 Dec;149A(12):2877-81. doi: 10.1002/ajmg.a.33106.

Authors

Doriana Misceo¹, Karen Helene Orstavik, Helle Lybaek, Inger Sandvig, Eli Ormerod, Gunnar Houge, Eirik Frengen

Affiliation

¹ Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway.

PMID: 19938092
DOI: 10.1002/ajmg.a.33106

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Pairing / genetics*
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 18 / genetics*
Comparative Genomic Hybridization
Family
Female
Gene Duplication*
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Inheritance Patterns / genetics*
Karyotyping
Male
Mothers*
Pregnancy