Ring chromosome 7: report of the fifth case.
作者信息
Caramia G M, Baroncini A, Osimani P, Forabosco A
机构信息
Divisione Pediatria-Neonatologia, Ospedale dei Bambini G. Salesi, Ancona, Italy.
出版信息
Eur J Pediatr. 1990 Apr;149(7):475-6. doi: 10.1007/BF01959398.
PMID:2189730
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.
摘要
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