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.
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Authors | G M Caramia, A Baroncini, P Osimani, A Forabosco |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 149
Issue 7
Pg. 475-6
(Apr 1990)
ISSN: 0340-6199 [Print] Germany |
PMID | 2189730
(Publication Type: Case Reports, Journal Article, Review)
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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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