title: Case report: partial trisomy 4q27q35 syndrome.
abstract: Partial trisomy 4q is a rare chromosomal abnormality which results in variable clinical features, often including growth and developmental delay, mental retardation and dysmorphic features. We herein report a newborn with the diagnosis of partial trisomy 4q with Hirschsprung's disease who was monitored in neonatal intensive care unit. This is the first report of partial trisomy 4q27q35 with accompanying Hirschsprung's disease.
authors: S
authors: S
authors: Arayici
authors: V
authors: V
authors: Topcu
authors: G Kadioglu
authors: GK
authors: Simsek
authors: G Kanmaz
authors: GK
authors: Kutman
authors: S S
authors: SS
authors: Oguz
authors: U
authors: U
authors: Dilmen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics / Q000473:pathology*