title: A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH.
abstract: We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymmetric narrow inverted nostrils, micrognathia, low-set dysplastic ears. 7p15.3-p22.3 duplication and a 7p22.3-pter deletion were characterized by array-CGH analysed after karyotyping and FISH studies. The patient's distinctive features are consistent with the phenotypic features of 7p duplication. The genes involved in these regions are discussed for their possible relation to our patient's phenotype.
authors: B B
authors: BB
authors: Geckinli
authors: H
authors: H
authors: Aydin
authors: A
authors: A
authors: Karaman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy / Q000235:genetics*