{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:36:26Z","timestamp":1757615786472,"version":"3.44.0"},"reference-count":66,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T00:00:00Z","timestamp":1754611200000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Copy number variations in chromosomal segments 3q29 and 13q34 are described in the literature, with varying reported phenotypic findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report the case of a male proband found to have prenatal hydrocephalus and intrauterine growth restriction at 32\u2009weeks gestation. Genetic testing revealed a gain of a 4.8 megabase (Mb) region of 3q29 and a loss of a 5.4\u2009Mb region of 13q33.3q34, yielding partial trisomy 3q29 and monosomy 13q34. FISH studies suggest that this unbalanced translocation resulted from a paternal balanced translocation. Findings at birth included respiratory distress requiring intubation, small birth weight, hypotonia, coagulopathy, pelvocaliectasis, and macrocephaly, with MRI demonstrating severe cortical thinning and white matter volume loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Though unbalanced translocations are highly individualized with varied phenotypes even among close relatives, this discussion of a proband and family members with translocation of chromosomes 3 and 13 contributes to published knowledge regarding these variants. We demonstrate the utility of online databases DECIPHER, OMIM, and Unique, as well as a translocation risk calculator, for understanding genetic anomalies and prognostic data for families affected by similar genetic variations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2517","type":"journal-article","created":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T11:41:09Z","timestamp":1754653269000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus"],"prefix":"10.1002","volume":"117","author":[{"given":"Teresa E.","family":"Fowler","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Wellstar\u2010MCG Health  Augusta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony R.","family":"Gregg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Prisma Health 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