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The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017

Wu Qinghua, Wang Cong, Shi Huirong, Kong Xiangdong, Ren Shumin, Jiang Miao

Abstract excerpt

45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases...

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Body Height
Endocrine System
Infant
Laparoscopy
Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sex Characteristics

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Identifiers

PMID: 28214852
DOI: 10.1159/000455260

Genes

SRY

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