Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
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2q24.1q24.3 间质性缺失的女婴听力障碍。
DOI：
10.1111/cga.12207
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Masuda S.
中科院分区：
文献类型：
--
作者：
Ono H;Kurosawa K;Wakamatsu N;Masuda S.
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 withde novoheterozygous 2q24.1q24.3 deletion.
