Cytogenetic and molecular genetics of a rare case with Turner syndrome / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 162-164, 2021.
Article
em Zh
| WPRIM
| ID: wpr-885098
Biblioteca responsável:
WPRO
ABSTRACT
Turnner syndrome is a common sex chromosome disorder. We reported a rare case with Turnner syndrome caused by abnormal number and structure of sex chromosomes. Hereby fluorescence in situ hybridization (FISH) and copy number variation by whole genome low depth sequencing (CNV-seq) were used to clarify the abnormal chromosome. This study provides a diagnostic strategy for clinicians and genetic researchers.
Texto completo:
1
Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2021
Tipo de documento:
Article