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Sex Chromosome-Linked Diseases

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Fetal Morph Functional Diagnosis

Part of the book series: Comprehensive Gynecology and Obstetrics ((CGO))

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Abstract

It is widely accepted that human X and Y chromosomes are differentiated from a pair of autosomes by means of chromosomal inversions or accumulation of linked sex-determining genes. Therefore, the diseases caused by X- and Y-linked genes are not only similar to those caused by autosomes genes, but also gender specific. Some studies on the relative roles of the sex chromosome genes are likely to illuminate the reasons for the expression of some diseases within and between the sexes. Understanding the bases of these gender-based differences is also important for the development of new approaches to disease prevention, diagnosis, and treatment. In this chapter, we overview our current knowledge about the chromosomal, genomic, and single-gene diseases of the sex chromosomes, and discuss the correlation with fetal morphology.

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Authors and Affiliations

  1. Central Laboratory for Birth Defects Prevention and Control, Ningbo Women’s and Children’s Hospital, Zhejiang, P.R. China

    Haibo Li, Lulu Yan, Yuxin Zhang, Yingwen Liu & Min Xie

  2. Hangzhou Diagens Biotechnology Co., Ltd, Hangzhou, Zhejiang, P.R. China

    Ning Song

  3. Medical School, Shanghai Jiao Tong University, Shanghai, P.R. China

    Ning Song

  4. Department of Stem Cell Biology, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan

    Taosheng Li

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  1. Haibo Li
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  1. Nagasaki University, Nagasaki, Japan

    Hideaki Masuzaki

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Li, H. et al. (2021). Sex Chromosome-Linked Diseases. In: Masuzaki, H. (eds) Fetal Morph Functional Diagnosis. Comprehensive Gynecology and Obstetrics. Springer, Singapore. https://doi.org/10.1007/978-981-15-8171-7_15

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