Maternal gonosomal mosaicism in rare autosomal dominant SLFN14-related thrombocytopenia

Br J Haematol. 2022 Dec;199(5):765-767. doi: 10.1111/bjh.18481. Epub 2022 Oct 13.

Authors

Ming-Ping Ang¹, Seoh-Leng Yeoh¹, Choo-Hau Lim², Siah-Li Foo³, Yong-Wee Wong³, Gaik-Siew Ch'ng⁴

Affiliations

¹ Department of Paediatrics, Penang General Hospital, Penang, Malaysia.
² Department of Paediatrics, Seberang Jaya Hospital, Penang, Malaysia.
³ DNA Laboratories Sdn Bhd, Selangor, Malaysia.
⁴ Department of Genetics, Penang General Hospital, Penang, Malaysia.

PMID: 36237120
DOI: 10.1111/bjh.18481

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Chromosome Breakage
Chromosome Disorders*
Humans
Mosaicism
Thrombocytopenia* / genetics

Supplementary concepts

Thrombocytopenia chromosome breakage