Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate
dc.contributor.author | Şenses, Dursun A. | |
dc.contributor.author | Sılan, Fatma | |
dc.contributor.author | Uzun, Hakan | |
dc.contributor.author | Alagöz, Demet | |
dc.contributor.author | Çetin, Zafer | |
dc.contributor.author | Kocabay, Kenan | |
dc.date.accessioned | 2020-04-30T23:20:34Z | |
dc.date.available | 2020-04-30T23:20:34Z | |
dc.date.issued | 2007 | |
dc.department | DÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | en_US |
dc.description | WOS: 000248411700001 | en_US |
dc.description | PubMed: 17710868 | en_US |
dc.description.abstract | We 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. | en_US |
dc.identifier.endpage | 170 | en_US |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 2 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 163 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.12684/4034 | |
dc.identifier.volume | 18 | en_US |
dc.identifier.wos | WOS:000248411700001 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.language.iso | en | en_US |
dc.publisher | Medecine Et Hygiene | en_US |
dc.relation.ispartof | Genetic Counseling | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | 4q trisomy | en_US |
dc.subject | duplication of 4q | en_US |
dc.subject | unbalanced translocation of 4q | en_US |
dc.title | Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate | en_US |
dc.type | Article | en_US |