title: Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
abstract: Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response. Case of 2q24.1q24.3 deletion with hearing impairment is quite rare. We suspect that hearing impairment is caused by bilateral cochlear nerve deficiency due to cochlear nerve canal stenosis. Further studies are necessary to evaluate hearing impairment as a clinical feature in patients with de novo heterozygous 2q24.1q24.3 deletion.
authors.affiliation: The Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ono
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.affiliation: The Department of Pediatric rehabilitation, Hiroshima Prefectural Hospital, Hiroshima, Japan.
authors.forename: Shin
authors.initials: S
authors.lastname: Masuda
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D000160:Vestibulocochlear Nerve Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
keywords: 2q24.1q24.3 deletion; cochlear nerve deficiency; hearing impairment