Ring chromosome 7: report of the fifth case.
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.
Caramia
G M
GM
Divisione Pediatria-Neonatologia, Ospedale dei Bambini G. Salesi, Ancona, Italy.
Baroncini
A
A
Osimani
P
P
Forabosco
A
A
D000293:Adolescent; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009508:Nevus, Pigmented / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics; D012303:Ring Chromosomes; D012878:Skin Neoplasms / Q000235:genetics*