Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
Congenit Anom (Kyoto)
; 57(4): 118-121, 2017 Jul.
Article
em En
| MEDLINE
| ID: mdl-28039919
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Nervo Vestibulococlear
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Deleção Cromossômica
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Perda Auditiva
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Congenit Anom (Kyoto)
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Japão