title: A female patient with partial duplication 22 (q13-->qter).
abstract: We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany. dagmar.wieczorek@uni-essen.de
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: J
authors.initials: J
authors.lastname: Holtvogt
authors.forename: S
authors.initials: S
authors.lastname: Thonig
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009056:Mouth Abnormalities / Q000235:genetics; D013577:Syndrome