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Ring chromosome 7: report of the fifth case
G M Caramia1, A Baroncini, P Osimani
1Divisione Pediatria-Neonatologia, Ospedale dei Bambini G. Salesi, Ancona, Italy.
European Journal of Pediatrics
|April 1, 1990
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.