title: Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).
abstract: We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.
authors.affiliation: Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fujita
authors.forename: D
authors.initials: D
authors.lastname: Mochizuki
authors.forename: Y
authors.initials: Y
authors.lastname: Mori
authors.forename: N
authors.initials: N
authors.lastname: Nakamoto
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Omi
authors.forename: H
authors.initials: H
authors.lastname: Kodama
authors.forename: Y
authors.initials: Y
authors.lastname: Yanagawa
authors.forename: T
authors.initials: T
authors.lastname: Abe
authors.forename: T
authors.initials: T
authors.lastname: Tsuzuku
authors.forename: Y
authors.initials: Y
authors.lastname: Yamanouchi
authors.forename: T
authors.initials: T
authors.lastname: Takano
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003051:Cochlea / Q000002:abnormalities; D003638:Deafness / Q000151:congenital; D005260:Female; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D009186:Myelin Sheath / Q000473:pathology; D014722:Vestibule, Labyrinth / Q000002:abnormalities