title: 7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review.
abstract: The oculoauriculovertebral spectrum or Goldenhar syndrome is characterized by varying degrees of prevalently unilateral underdevelopment of the craniofacial structures (orbit, ear, and mandible) in association with vertebral, cardiac, renal, and central nervous system defects. We report on a term neonate with a partial monosomy 7q21.11 with marked hemifacial microsomia, facial clefting, and spinal anomaly. The estimated size of the monosomic region of 7q21.11 was approximately 55 kilobases. This is the first report of a patient with partial monosomy 7q21.11 associated with oculoauriculovertebral spectrum.
authors.forename: Surasak
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: Melissa
authors.initials: M
authors.lastname: February
authors.forename: Lissa
authors.initials: L
authors.lastname: Francois
authors.forename: Eugene
authors.initials: E
authors.lastname: Garrow
authors.forename: Chantal
authors.initials: C
authors.lastname: Bruno
authors.forename: Rajeev
authors.initials: R
authors.lastname: Mehta
mesh_terms: D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn
keywords: Goldenhar syndrome; chromosomal anomaly; oculoauriculovertebral spectrum; partial 7q deletion