The zebrafish (Danio rerio) is a powerful model organism for the study of vertebrate biology, being well suited to both developmental and genetic analysis. More recently, the rapid progress of various zebrafish genomics infrastructure initiatives is facilitating the development of zebrafish models of human disease. Genome organization and the pathways involved into control of signal transduction appear to be highly conserved between zebrafish and humans and therefore zebrafish may be used for modeling of human diseases. This review will highlight and describe the utility of zebrafish in the study of human diseases.
This case series emphasize the necessity of cytogenetic analysis of couples with primary infertility and recurrent miscarriages before any assisted reproductive technology is performed. For couples in whom one or more partners have a translocation, prenatal genetic diagnosis/preimplantation genetic diagnosis is recommended.
Background Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). Methods In this paper, we report three cases of familial complete androgen insensitivity syndrome who presented with primary amenorrhea. Results Physical examination, ultrasonography studies, and biochemical, karyotype, and molecular cytogenetic analyses were conducted. Based on the findings, they were diagnosed and confirmed as having complete androgen insensitivity syndrome. Conclusion A multidisciplinary team is needed from disclosure of the diagnosis, gender assignment, surgical management, hormonal replacement therapy, to counseling and support.
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