First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth

Article ID	Journal	Published Year	Pages	File Type
5509505	Clinica Chimica Acta	2017	7 Pages	PDF

Abstract

This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD.

Keywords

PGD X-linked hypohidrotic ectodermal dysplasia ISCN MDA EDAR trophectoderm aCGH ALB ADO NGS PBS EDA STR 5′-UTR Array comparative genomic hybridisation intracytoplasmic sperm injection Preimplantation genetic diagnosis preimplantation genetic diagnosis (PGD)multiple displacement amplification Next generation sequencing Short tandem repeat ectodermal dysplasia Anhidrotic ectodermal dysplasia EDARADD Phosphate buffered saline fluorescence in situ hybridization Fish Pericentric inversion ICSI X chromosome