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To date, only one case of an ACDMPV\u2010causative CNV deletion inherited from a very\u2010low level somatic mosaic mother has been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, histopathological, and molecular studies, including whole genome sequencing, chromosomal microarray analysis, qPCR, and Sanger sequencing, followed by in vitro fertilization (IVF) with preimplantation genetic testing (PGT) were used to study a family with a deceased neonate with ACDMPV.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A pathogenic CNV deletion of the lung\u2010specific <jats:italic>FOXF1<\/jats:italic> enhancer in the proband was found to be inherited from an unaffected mother, 36% mosaic for this deletion in her peripheral blood cells. The qPCR analyses of saliva, buccal cells, urine, nail, and hair samples revealed 19%, 18%, 15%, 19%, and 27% variant allele fraction, respectively, indicating a high recurrence risk. Grandparental studies revealed that the deletion arose on the mother's paternal chromosome 16. PGT studies revealed 44% embryos with the deletion, reflecting high\u2010level germline mosaicism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our data further demonstrate the importance of parental testing in ACDMPV families and reproductive usefulness of IVF with PGT in families with high\u2010level parental gonosomal mosaicism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2062","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T07:56:09Z","timestamp":1663660569000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["High\u2010level gonosomal mosaicism for a pathogenic non\u2010coding <scp>CNV<\/scp> deletion of the lung\u2010specific <i>FOXF1<\/i> enhancer in an unaffected mother of an infant with <scp>ACDMPV<\/scp>"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3251-8133","authenticated-orcid":false,"given":"Esra","family":"Y\u0131ld\u0131z B\u00f6l\u00fckba\u015f\u0131","sequence":"first","affiliation":[{"name":"Department of Molecular &amp; Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2340-4513","authenticated-orcid":false,"given":"Justyna A.","family":"Karolak","sequence":"additional","affiliation":[{"name":"Chair and Department of Genetics and Pharmaceutical Microbiology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3886-2971","authenticated-orcid":false,"given":"Przemyslaw","family":"Szafranski","sequence":"additional","affiliation":[{"name":"Department of Molecular &amp; Human Genetics Baylor College of Medicine  Houston 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