Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Am J Med Genet A. 2016 Jul;170(7):1938-41. doi: 10.1002/ajmg.a.37679. Epub 2016 May 6.

Authors

Ho-Ming Luk¹, Fai-Man Ivan Lo¹, Shinichiro Sano^{2

3}, Keiko Matsubara², Akie Nakamura², Tsutomu Ogata^{2

3}, Masayo Kagami²

Affiliations

¹ Department of Health, Clinical Genetic Service, Hong Kong, SAR, China.
² Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
³ Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

No abstract available

Keywords: Silver-Russell syndrome; somatic mosaicism; upd(11)mat.

Publication types

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

MeSH terms

Cheek / pathology*
Humans
Infant, Newborn
Male
Mosaicism*
Silver-Russell Syndrome / genetics*
Uniparental Disomy*