Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype

Pediatr Int. 2021 Sep;63(9):1122-1123. doi: 10.1111/ped.14551. Epub 2021 Jun 18.

Authors

Yasuko Shoji¹, Shinobu Ida¹, Toshihide Kubo², Yuri Etani¹, Masanobu Kawai^{1

3}

Affiliations

¹ Department of Gastroenterology, Nutrition and Endocrinology, Research Institute Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.
² Department of Pediatrics, National Hospital Organization, Okayama Medical Center, Okayama, Japan.
³ Department of Bone and Mineral Research, Research Institute Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.

PMID: 34142747
DOI: 10.1111/ped.14551

No abstract available

Keywords: 46, XY DSD; Turner syndrome; karyotype; mosaicism.

MeSH terms

Humans
Karyotype
Karyotyping
Lymphocytes
Turner Syndrome* / diagnosis
Turner Syndrome* / genetics