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Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the... 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. (1990: J Med Genet 27:588–589). Am. J. Med. Genet. 92:195–199, 2000. © 2000 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/(SICI)1096-8628(20000529)92:3<195::AID-AJMG7>3.3.CO;2-4
Publisher site
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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. (1990: J Med Genet 27:588–589). Am. J. Med. Genet. 92:195–199, 2000. © 2000 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics – Wiley

Published: May 29, 2000

Keywords: chromosome 22q deletion; accelerated growth; hearing loss; delayed myelination

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