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https://hdl.handle.net/11499/8798| Title: | Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation | Authors: | Bagcı, Gülseren Çetin, Gökhan Ozan Semerci, Nur Toruner, G. A. Cinbiş, Mine |
Keywords: | agenesis anteverted nostril article birth weight blepharophimosis body height body weight C banding case report chromosome 14q chromosome breakage chromosome translocation chromosome Xp chromosome Yp congenital heart malformation corpus callosum cytogenetics DNA microarray eye malformation face dysmorphia flatfoot fluorescence in situ hybridization gait disorder gene deletion gene duplication growth retardation head circumference hearing impairment hernia heterochromatin hirsutism human hypertelorism hypoplasia intrauterine growth retardation karyotype long philtrum low set ear male mental deficiency microcephaly micrognathia muscle hypotonia neuroimaging nose malformation nuclear magnetic resonance imaging palate malformation palpebral fissure priority journal ptosis strabismus Abnormalities, Multiple Child, Preschool Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 14 Cytogenetic Analysis Humans In Situ Hybridization, Fluorescence Karyotyping Male Sequence Deletion Translocation, Genetic |
Abstract: | Abstract Not Available | URI: | https://hdl.handle.net/11499/8798 https://doi.org/10.1097/MCD.0b013e32834d6ba3 |
ISSN: | 0962-8827 |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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