Angelman syndrome caused by an identical familial 1,487-kb deletion

Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550.

Authors

Kanako Sato¹, Mie Iwakoshi, Osamu Shimokawa, Haruya Sakai, Tohru Ohta, Shinji Saitoh, Noriko Miyake, Norio Niikawa, Naoki Harada, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto

Affiliation

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 17152063
DOI: 10.1002/ajmg.a.31550

No abstract available

Publication types

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

MeSH terms

Adult
Angelman Syndrome / diagnosis
Angelman Syndrome / genetics*
Base Sequence
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Male
Pedigree
Phenotype