Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn “on” (expressed) or “off” resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted domain on chromosome 14q32 that results in either Kagami-Ogata syndrome or Temple syndrome depending on parental transmission. To avoid inheriting the deletion from the carrier mother, embryos generated by in vitro fertilization were screened to identify unaffected embryos for transfer, resulting in a health new born baby. (By Dr. David Monk, https://jmg.bmj.com/content/early/2021/02/11/jmedgenet-2020-107433 )

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