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Ring chromosome 7: report of the fifth case.

Abstract
A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.
AuthorsG M Caramia, A Baroncini, P Osimani, A Forabosco
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 149 Issue 7 Pg. 475-6 (Apr 1990) ISSN: 0340-6199 [Print] Germany
PMID2189730 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Adolescent
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 7
  • Growth Disorders (genetics)
  • Humans
  • Male
  • Microcephaly (genetics)
  • Nevus, Pigmented (genetics)
  • Pigmentation Disorders (genetics)
  • Ring Chromosomes
  • Skin Neoplasms (genetics)

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