title: Ring chromosome 9 in a newborn.
abstract: Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.
authors.affiliation: Mersin Maternity and Children Hospital Medical Genetic, Mersin, Turkey. o_aldemir@hotmail.com
authors.forename: O
authors.initials: O
authors.lastname: Aldemir
authors.affiliation: Mersin Maternity and Children Hospital Neonatology, Mersin, Turkey.
authors.forename: I H
authors.initials: IH
authors.lastname: Celik
authors.affiliation: lntergen Genetic Research and Diagnostic Center, Ankara, Turkey.
authors.forename: K
authors.initials: K
authors.lastname: Karaer
authors.affiliation: lntergen Genetic Research and Diagnostic Center, Ankara, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Ceylaner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012303:Ring Chromosomes