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.
Artículo
en Chino
| WPRIM
| ID: wpr-885098
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2021
Tipo del documento:
Artículo
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