Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)
✍ Scribed by Fujita, Yasuko; Mochizuki, Daishi; Mori, Yosuke; Nakamoto, Natsue; Kobayashi, Masaaki; Omi, Kazuhiko; Kodama, Hiroko; Yanagawa, Yukishige; Abe, Toshiaki; Tsuzuku, Toshihiro; Yamanouchi, Yasuko; Takano, Takako
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 51 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.