Ontology highlight
ABSTRACT:
SUBMITTER: Schilit SLP
PROVIDER: S-EPMC7042487 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Schilit Samantha L P SLP Menon Shreya S Friedrich Corinna C Kammin Tammy T Wilch Ellen E Hanscom Carrie C Jiang Sizun S Kliesch Sabine S Talkowski Michael E ME Tüttelmann Frank F MacQueen Amy J AJ Morton Cynthia C CC
American journal of human genetics 20191219 1
Unexplained infertility affects 2%-3% of reproductive-aged couples. One approach to identifying genes involved in infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal aberration (BCA). While BCAs may reduce fertility by production of unbalanced gametes, a chromosomal rearrangement may also disrupt or dysregulate genes important in fertility. One such subject, DGAP230, has severe oligozoospermia and 46,XY,t(20;22)(q13.3;q11.2). We identified exclusive o ...[more]