Şenses, Dursun A.Sılan, FatmaUzun, HakanÇetin, ZaferÇavuşoğlu, Ebru UçarKocabay, Kenan2020-04-302020-04-3020071015-8146https://hdl.handle.net/20.500.12684/4033WOS: 000252605500007PubMed: 18286822We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation,, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.eninfo:eu-repo/semantics/closedAccess1q trisomyduplication of 1qunbalanced translocation of 1qArticle184409416WOS:000252605500007N/AQ4