Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent as the deletions of this region; however, few microduplications have been reported. We show that the phenotype of these patients with microduplications is extremely diverse, ranging from n...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Yobb, Twila M., Somerville, Martin J., Willatt, Lionel, Firth, Helen V., Harrison, Karen, MacKenzie, Jennifer, Gallo, Natasha, Morrow, Bernice E., Shaffer, Lisa G., Babcock, Melanie, Chernos, Judy, Bernier, Francois, Sprysak, Kathy, Christiansen, Jesse, Haase, Shelagh, Elyas, Basil, Lilley, Margaret, Bamforth, Steven, McDermid, Heather E.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2005
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199375/
https://ncbi.nlm.nih.gov/pubmed/15800846
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky