Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate

Şenses, Dursun A.Sılan, FatmaUzun, HakanAlagöz, DemetÇetin, ZaferKocabay, Kenan2020-04-302020-04-3020071015-8146https://hdl.handle.net/20.500.12684/4034WOS: 000248411700001PubMed: 17710868We describe a male neonate with a duplication of4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.eninfo:eu-repo/semantics/closedAccess4q trisomyduplication of 4qunbalanced translocation of 4qPartial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonateArticle182163170WOS:000248411700001N/AQ4