When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism-Reference-Cited by-同舟云学术

When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism

Published:2018-09 Issue:4 Volume:110 Page:732-736
ISSN:0015-0282
Container-title:Fertility and Sterility
language:en
Short-container-title:Fertility and Sterility

Author:

Patel Biren,Byrne Jan L.B.,Phillips Amber^ORCID,Hotaling James M.,Johnstone Erica B.

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology,Reproductive Medicine

Reference11 articles.

1. Somatic mosaicism in the human genome;Freed;Genes,2014

2. Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report;Carvajal;Gene,2016

3. A case of campomelic dysplasia without sex reversal;Kim;J Korean Med Sci,2011

4. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region;Pfeifer;Am J Hum Genet,1999

5. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia;Leipoldt;Clin Genet,2007

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1. Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms;Orphanet Journal of Rare Diseases;2023-06-03

2. Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction;Frontiers in Genetics;2021-07-01

3. Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism;Molecular Genetics & Genomic Medicine;2021-05-04