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De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
  1. M Yoshino,
  2. Y Watanabe,
  3. N Harada,
  4. K Abe
  1. Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.

    Abstract

    We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.

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