title: Costovertebral dysplasia in a patient with partial trisomy 22.
abstract: A newborn female presented with costovertebral dysplasia (CVD), subtle facial anomalies, and neonatal respiratory distress. Her karyotype demonstrated a small supernumerary NOR-positive marker that was subsequently identified as del(22)(q11.2). This extra structurally abnormal chromosome was found by DNA microsatellite marker analyses to be derived from a paternal chromosome 22. The child has had severe growth and developmental delay along with pulmonary insufficiency and hypoxia but is presently stable at age 20 months. Findings in our patient correlate with similar observations in children with small markers derived from D/G and D/D translocations reported before banding technology was available. These reports and recent mapping results suggest that a pericentric gene family, distributed on one or more acrocentric chromosomes, may have played a role in the development of the human axial skeleton. Data from additional studies will be needed to confirm or refute this hypothesis.
authors.affiliation: Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA. Vijay.tonk@ttuhsc.edu
authors.forename: Vijay
authors.initials: V
authors.lastname: Tonk
authors.forename: Golder
authors.initials: G
authors.lastname: Wilson
authors.forename: Robert
authors.initials: R
authors.lastname: Schutt
authors.forename: Justin
authors.initials: J
authors.lastname: Mock
authors.forename: Herman
authors.initials: H
authors.lastname: Wyandt
authors.forename: Hon Fong L
authors.initials: HF
authors.lastname: Mark
authors.forename: Masamichi
authors.initials: M
authors.lastname: Ito
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications / Q000235:genetics; D014314:Trisomy / Q000235:genetics*