{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:46Z","timestamp":1786976806920,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Unbalanced translocation between chromosomes X and Y is a recurring chromosomal rearrangement. The presence of a derivative chromosome X (derX), where a Yq11\u2010qter segment is attached to the short arm of chromosome X, replacing a terminal Xpter\u2010p22.31, poses challenges for interpretation of findings by prenatal cell\u2010free DNA (cfDNA) screening, establishing genotype\u2013phenotype correlation in male and female individuals, and for genetic counseling. In this report, we provide clinical outcomes, inheritance, and clinical implications of derX in three families referred to diagnostic testing due to discrepant results for sex chromosomes reported by cfDNA, abnormal prenatal ultrasound findings, recurrent pregnancy losses, or affected family members with derX transmitted through multiple generations. Reports of discrepant sex and risk for sex chromosome aneuploidy such as 45,X, 47,XXY and 47,XYY are common false positive outcomes of a prenatal cfDNA screening if either a mother or a fetus has unbalanced Xp\u2010Yq translocation. In addition, mothers who carry der(X) facing a recurrent risk of ambiguity in prenatal testing. Pregnancy loss and neonatal death\/stillbirth of male offspring are common in affected families, but this risk does not directly correlate with the size of deleted Xp region. This study emphasizes the importance of CMA and familial testing for accurate diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.63913","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T08:39:48Z","timestamp":1729672788000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Recurrent Xp22.31\u2010Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families"],"prefix":"10.1002","volume":"197","author":[{"given":"Marwa","family":"Daghsni","sequence":"first","affiliation":[{"name":"Center for Medical Genetics UPMC Magee\u2010Women's Hospital  Pittsburgh Pennsylvania USA"},{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sheehan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics UPMC Magee\u2010Women's Hospital  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Aarabi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Pathology University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma F.","family":"Witchel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Rajkovic","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of California San Francisco  San Francisco California USA"},{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Francisco  San Francisco California USA"},{"name":"Institute of Human Genetics University of California san Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Pathology University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Human Genetics, School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Department of Pathology Stanford University  Stanford California 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