“Whoa! It’s like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Try 2 weeks free now

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

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
Loading next page...

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy unlimited access and
personalized recommendations from
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $40/month

Try 2 weeks free now

Explore the DeepDyve Library

How DeepDyve Works

Spend time researching, not time worrying you’re buying articles that might not be useful.

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.

All the latest content is available, no embargo periods.

See the journals in your area

Simple and Affordable Pricing

14-day free trial. Cancel anytime, with a 30-day money-back guarantee.

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Best Deal — 25% off

Annual Plan

  • All the features of the Professional Plan, but for 25% off!
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

billed annually