Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10.

Authors

Toshiki Takenouchi¹, Tatsuhiko Yagihashi, Hiroyuki Tsuchiya, Chiharu Torii, Kumiko Hayashi, Rika Kosaki, Shinji Saitoh, Takao Takahashi, Kenjiro Kosaki

Affiliation

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

PMID: 22887345
DOI: 10.1002/ajmg.a.35230

No abstract available

MeSH terms

Child
Chromosomes, Human, Pair 18 / genetics
Facies
Female
Humans
Hyperventilation / etiology*
Hyperventilation / genetics*
Hyperventilation / pathology
Intellectual Disability / etiology*
Intellectual Disability / genetics*
Intellectual Disability / pathology
Mosaicism*
Ring Chromosomes

Supplementary concepts

Chromosome 18 ring
Pitt-Hopkins syndrome